Minimal lower eyelid epicanthoplasty combined with thermal contraction to treat epiblepharon in chinese children.

BACKGROUND: To evaluate the clinical efficacy of combined minimal lower eyelid epicanthoplasty and thermal contraction for epiblepharon repair in Chinese children. METHODS: Between January 2017 and August 2020, a single surgeon corrected epiblepharon in Chinese children using minimal lower eyelid epicanthoplasty combined with thermal contraction. First, a minimal epicanthoplasty flap to balance the lower eyelid was made cross the lower eyelid epicanthus, which connected with a 20-mm-long incision 1.5 mm below the lower eyelid margin. After removing the hypertrophic orbicularis oculi muscle running between the lower epicanthal fold and the medial canthal tendon, thermal cauterization was applied to increase lower eyelid rotation by creating adhesions between the lower eyelid retractor and tarsus. The residual medial edge was sutured to the corner of the epicanthus to decrease the lower eyelid epicanthus. The postoperative follow-up ranged from 3 to 24 months. We retrospectively analyzed cases to determine whether this approach decreased the lower eyelid epicanthal fold to equalize the tension of the lower eyelid. The surgical outcomes including the direction of lower eyelid eyelashes, complications, and refractive errors were evaluated. RESULTS: Data from each eye of 53 Chinese children (29 female, 24 males; mean age: 5.3 ± 2.3 years) who had undergone minimal lower eyelid epicanthoplasty combined with thermal contraction were included. During follow-up, recurrence was observed in just one of the 106 eyes (0.94%), and two eyes (1.89%) showed under-correction. No visible scars formed in the postoperative period. All patients' parents were satisfied with the cosmetic results and had no serious complaints. The mean astigmatism was significantly reduced by the surgery from 1.82 ± 0.45 diopters (D) preoperatively to 1.43 ± 0.36 D postoperatively (P < 0.05). CONCLUSION: This surgery is easy to design, time-efficient, and is effective in the correction of epiblepharon. The procedure allows surgeons to achieve good appearance and natural eyelid contour without apparent complications.

Early detection of visual impairment in young children using a smartphone-based deep learning system.

Early detection of visual impairment is crucial but is frequently missed in young children, who are capable of only limited cooperation with standard vision tests. Although certain features of visually impaired children, such as facial appearance and ocular movements, can assist ophthalmic practice, applying these features to real-world screening remains challenging. Here, we present a mobile health (mHealth) system, the smartphone-based Apollo Infant Sight (AIS), which identifies visually impaired children with any of 16 ophthalmic disorders by recording and analyzing their gazing behaviors and facial features under visual stimuli. Videos from 3,652 children (≤48 months in age; 54.5% boys) were prospectively collected to develop and validate this system. For detecting visual impairment, AIS achieved an area under the receiver operating curve (AUC) of 0.940 in an internal validation set and an AUC of 0.843 in an external validation set collected in multiple ophthalmology clinics across China. In a further test of AIS for at-home implementation by untrained parents or caregivers using their smartphones, the system was able to adapt to different testing conditions and achieved an AUC of 0.859. This mHealth system has the potential to be used by healthcare professionals, parents and caregivers for identifying young children with visual impairment across a wide range of ophthalmic disorders.

Elevated Thyroid Autoantibodies Aggravate Stroke Severity in Euthyroidism with Acute Ischemic Stroke.

Introduction: Studies have indicated that immune reactions contribute to endothelial dysfunction and atherosclerosis. It is unclear whether thyroid dysfunction or elevated thyroid autoantibodies are associated with atherosclerosis. Therefore, we investigated the influence of thyroid autoimmunity related to elevated thyroid autoantibodies on functional outcome in euthyroidism with acute ischemic stroke (AIS). Methods: All patients with AIS underwent tests for thyroid function and thyroid antibodies (thyroid peroxidase antibody and thyroglobulin autoantibody). We divided the patients suffering from euthyroidism and AIS into positive thyroid autoantibody and negative thyroid autoantibody groups. Demographic profiles, risk factors, and functional outcomes were compared between the two groups. Results: Out of the total 422 patients, 50 (11.8%) were included in the positive thyroid autoantibody group. The National Institutes of Health Stroke Scale (NIHSS) score at admission and discharge was higher in the positive thyroid autoantibody group than the negative thyroid autoantibody group (P < 0.05). In addition, there was significant difference in the mortality during hospitalizations between the two groups (P < 0.01). Conclusion: This study showed that thyroid autoantibodies aggravate stroke severity in euthyroidism with AIS. We speculate that vascular damage related to thyroid autoimmunity may aggravate the increased risk of unfavorable outcomes, independent of thyroid function.

Surgical correction of recurrent epiblepharon in Chinese children using modified skin re-draping epicanthoplasty.

AIM: To evaluate the clinical efficacy of the modified skin re-draping epicanthoplasty procedure for correction of recurrent lower lid epiblepharon in Chinese children. METHODS: From 2016 to 2018, 18 children (10 males and 8 females, average age 6.2±1.7y; 30 eyes) with recurrent epiblepharon who attended Beijing Children's Hospital were included in the study. All the children had undergone lower eyelid surgery for epiblepharon. Surgical design included using an additional incision along the upper palpebral margin, to avoid vertical scarring on the upper lid. The re-draping method was used to correct recurrent epiblepharon. Follow-up ranged from 3 to 24mo. Postoperative surgical outcomes, complications, and subjective satisfaction were evaluated. RESULTS: Complete correction of cilia touching the cornea was observed in all patients during an average follow-up of 7.1mo. No "dog ears" or obvious scars were formed after surgery. All parents were satisfied with the cosmetic results and none complained. Mean astigmatism decreased from 2.39±0.79 diopter (D) preoperatively to 2.19±0.79 D at 6mo after surgery; however, the difference was not significant. Best-corrected visual acuity improved, although the change in mean visual acuity was not significant. No recurrence occurred during the follow-up period. CONCLUSION: This surgical modified skin re-draping technique is effective and highly satisfactory for correction of recurrent epiblepharon. The approach is characterized by a simple design, a straightforward procedure, inconspicuous scarring, and good postoperative appearance.

Clinical Features of Children with Retinoblastoma and Neuroblastoma.

PURPOSE: Retinoblastoma and neuroblastoma are the most common malignant extracranial solid tumors in children. This study aimed to summarize the clinical features, especially the delayed diagnosis in children with retinoblastoma and neuroblastoma. METHODS: In a single hospital-based case-control study, a retrospective cohort of 175 children with retinoblastoma and neuroblastoma diagnosed from January 2016 to January 2018 were reviewed. The state of enucleation in retinoblastomas and pathological prognosis in neuroblastomas were outcome indicators. Hereby, the patients were divided into two groups, and clinical features including age at presentation and delayed diagnosis were compared. RESULTS: A total of 112 patients with retinoblastoma and 63 with neuroblastoma were included. In the retinoblastoma cohort, the median age at presentation was 17.2 months (0.3-110 months). The mean delay of diagnosis was 1.6 ± 2.3 months, and the rate of enucleation was 61.6%. Unilateral disease, the International Classification of Intraocular Retinoblastoma (IIRC) stage E, and delay of diagnosis over 2.5 months were independent risk factors of ocular outcomes. Notably, the risk of enucleation was increased by 474% when the delay was longer than 2.5 months. In the neuroblastoma cohort, the delay of diagnosis of the unfavorable histology (UH) group was longer than that of the favorable histology (FH) group (1.9 months vs. 1.4 months, P=.487). The levels of serum ferritin and neuron-specific enolase were higher in the UH group than in the FH group (P < .05). CONCLUSIONS: This study summarized the clinical features and diagnosis biomarkers of retinoblastoma and neuroblastoma patients in China. These results might help to focus on early detection and treatment in children with retinoblastoma and neuroblastoma.

Altered Intrinsic Functional Connectivity of the Primary Visual Cortex in Patients with Corneal Ulcer: A Resting-State fMRI Study.

PURPOSE: To investigate differences in the functional connectivity (FC) of the primary visual cortex between patients with corneal ulcer (CU) and healthy controls (HCs) using resting-state functional magnetic resonance imaging. PATIENTS AND METHODS: A total of 30 patients with CU and 30 HCs were closely matched in terms of sex, age, and level of education. Two-sample t-test, receiver operating characteristic curve, and Pearson's correlation coefficient analyses were used to determine the differences in FC between the two groups, the mean FC value of patients with CU and HCs, and the correlation between FC signal values and clinical manifestations in different brain regions of patients. RESULTS: The CU group showed significantly elevated FC in the left and right middle frontal gyri and lower FC with the right cuneus compared with the HC group. In addition, the FC of the right cingulate and left superior frontal gyri also increased in the CU group. The receiver operating characteristic curve revealed high diagnostic value in those brain regions. CONCLUSION: CU involves aberrant FC of the primary visual cortex in different brain areas, including visual-related and cognitive-related regions. This finding may unveil the underlying neural mechanisms of impaired visual function in CU.

A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report.

RATIONALE: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and metabolic alkalosis. We present 1 case with Bartter syndrome, due to a novel compound heterozygous mutation in the KCNJ1 gene encoding the ATP-sensitive inward rectifier potassium channel in the thick ascending limb of the loop of Henle. PATIENT CONCERNS: A patient was admitted to our hospital because of weakness, polyuria, and polydipsia. At presentation to our hospital, the female Chinese patient was 34 years old and her physical examination was normal. Laboratory studies revealed hypokalemia, metabolic alkalosis, hypercalciuria, hyperparathyroidemia, and hyper-reninemia. In addition, urinary potassium was obviously higher. Computer tomography scan confirmed the patient had the bilateral medullary nephrocalcinosis. DIAGNOSIS: Blood samples were received from the patient and her parents, and deoxyribonucleic acid was extracted. The genetic analysis of SLC12A1, SLC12A3, KCNJ1, CLCNKB, BSND, and CASR was performed. The compound heterozygous KCNJ1 gene mutation was validated using conventional Sanger sequencing methods. INTERVENTIONS: The patient was treated with potassium supplementation. Her blood and urine chemistries improved over the next week. Serum potassium normalized with improvement in polyuria and polydipsia over the next month. OUTCOMES: Our patient was compound heterozygous for Thr234Ile and Thr71Met in the KCNJ1 gene. The c.701C>T variant predicted a change from a threonine codon to an isoleucine codon (p.Thr234Ile). The c.212C>T variant predicted a change from a threonine codon to a methionine codon (p.Thr71Met). The unaffected mother was heterozygous for the Thr234Ile mutation, whereas unaffected father was heterozygous for the Thr71Met mutation. LESSONS: The phenotypes of the patient were similar to other patients with Bartter syndrome. The phenotypes of the patient could eventually be explained by the presence of the novel compound heterozygous p.Thr234Ile/p.Thr71Met variants in the KCNJ1 gene.

(3R)-5,6,7-trihydroxy-3-isopropyl-3-methylisochroman-1-one ameliorates retinal degeneration in Pde6brd10 mice.

As a severe photoreceptor-degenerative disease, retinitis pigmentosa (RP) is currently incurable and eventually leads to partial or complete blindness. (3R)-5,6,7-trihydroxy-3-isopropyl-3-methylisochroman-1-one (TIM) is a novel antioxidant isolated from the plant of Alpinia katsumadai Hayata, with protective effects on photoreceptor cells against lipoteichoic acid-induced damage through inhibiting oxidative stress. The present study was to further demonstrate whether TIM could ameliorate retinal degeneration of Pde6brd10 (rd10) mice, a mouse model of RP. rd10 mice were treated with TIM by intraperitoneal injection daily from postnatal Day 10 (P10) to P26. Retinal function was tested by electroretinography. Histology was evaluated by toluidine blue staining and TUNEL assay. Oxidative stress markers were measured by ELISA. Immunohistochemistry, real-time PCR, and western blotting were applied to explore the protective mechanism. Results showed TIM significantly improved the retinal function and decreased photoreceptor cell apoptosis in rd10 mice through reducing oxidative stress. For the first time, this study demonstrated the protective effects of TIM against retinal degeneration in rd10 mice, providing scientific rationale to use TIM treating the RP.

[Efficacy of surgery on congenital nystagmus with convergence damping].

OBJECTIVE: To evaluate the efficacy of surgery in the treatment of congenital nystagmus with convergence damping. METHODS: Retrospective and comparative case series. Eight patients diagnosed as congenital nystagmus with convergence damping at Beijing Children's Hospital between September 2010 and September 2012 were enrolled in this study. The ages were 9.5 (12, 6) years old, and follow-up was 9 (24, 6) months. All patients received prism induced convergence and the same surgery of bimedial rectus recession and bilateral rectus tenotomy. The best corrected visual acuity, the range of fusion and the nystagmus waveforms were analyzed before and after surgery. RESULTS: The range of fusion was -3.75±1.83° to +19.38±3.16° before surgery and -3.88±1.55° to +19.00±3.02° after surgery; there was no significant difference (t=0.24, P=0.82). The binocular visual acuity increased from 0.21±0.15 without convergence to 0.28±0.18 using convergence; there was significant difference (t=-4.43, P=0.00). The visual acuity was 0.32±0.20 after surgery, significantly different from that before surgery without convergence (t=-5.29, P=0.00), but not significantly different from that before surgery using convergence (t=-2.12, P=0.07). Patients had significant improvements in the frequency (t=3.28, 3.02, P<0.05) and intensity of the nystagmus waveforms when using convergence and postoperatively (t=3.27, 3.48; P<0.05), but there was no significant improvement in the amplitude of the waveforms (t=1.31, 1.57, 0.31, P>0.05). CONCLUSIONS: Surgery for congenital nystagmus with convergence damping can provide expectations for ocular motor and visual results. The range of fusion should be wide enough, and the effect of convergence on the frequency is greater than that on the amplitude.

The crucial role of collagen-binding integrins in maintaining the mechanical properties of human scleral fibroblasts-seeded collagen matrix.

PURPOSE: The aim of this study was to identify the presence of collagen-binding integrin subunits in human scleral fibroblasts (HSFs) and investigate their actual functions in maintaining the mechanical creep properties of the HSFs-seeded collagen matrix. METHODS: Primary HSFs were cultured in vitro. Reverse- transcription PCR was used to detect mRNA expression of integrin α1, α2, and ß1 subunits in HSFs. In addition, western blot analysis and immunofluorescence were used to detect their protein in HSFs. Monoclonal antibodies were applied directly against the extracellular domains of integrin subunits in HSFs cultured in the three-dimensional collagen gels to block the interaction between HSFs and the extracellular collagen matrix. The effects of anti-integrin antibodies on HSFs morphology in collagen gel were observed. The effects of the added antibodies on fibroblast-mediated collagen gels' contraction were evaluated. Furthermore, the changes in mechanical creep properties of collagen gel were measured by a biomechanics test instrument. RESULTS: The mRNA and protein expressions of collagen-binding integrin α1, α2, and ß1 subunits were present in HSFs. The elongated bipolar cells converted to spherical shapes after 6 h after the addition of integrin α1ß1 and α2ß1 antibody. The blocking of integrin α1ß1 and α2ß1 subunits noticeably decreased the contraction in the collagen gels. In addition, all samples were subjected to a constantly applied load of 0.03 N for 600 s. The blocking of integrin α1ß1 and α2ß1 subunits also induced increases in the values of final extension, creep extension, and creep rate, compared to those of the controls (p<0.01). Furthermore, the creep elements were significantly increased with the augmentation of the integrin antibody dose (p<0.01). The final extension of the integrin α2ß1 antibody (1 µg/ml or 4 µg/ml) group was significantly higher compared to that of the integrin α1ß1 antibody (1 µg/ml or 4 µg/ml) group (p<0.01). However, the creep extension and creep rate of the integrin α2ß1 antibody (1 µg/ml or 4 µg/ml) group were not significantly different from those in the integrin α1ß1 antibody (1 µg/ml or 4 µg/ml) group (p>0.05). CONCLUSIONS: Our findings suggested that HSF integrin α1ß1 and α2ß1 participated in maintaining the mechanical creep properties of the HSFs-seeded collagen matrix. Furthermore, integrin α2ß1 might play a more crucial role in maintaining the mechanical creep properties of the collagen matrix than does integrin α1ß1.

Expression of adenosine receptors in human retinal pigment epithelium cells in vitro.

BACKGROUND: Adenosine receptors (ADORs) have been reported to play a role in experimental myopia. This study aimed to determine the distribution of ADORs in human retinal pigment epithelium (RPE) cells cultured in vitro. METHODS: Human RPE cells (cell line D407) were cultured in vitro. ADOR mRNA in RPE was detected by reverse transcription polymerase chain reaction. ADOR protein expression in RPE was confirmed by Western blotting analysis of cell lysates. Confocal fluorescence microscopy was used to study the subcellular distribution of ADORs. RESULTS: All four subtypes of ADORs mRNA and protein were expressed in human RPE. This was confirmed by Western blotting analysis. The ADOR subtypes were differently distributed within the cells. ADORA1 was expressed in nucleus, perinucleus and cytoplasm of RPE. ADORA2A was concentrated mainly in one side of the perinucleus and cytoplasm of RPE. ADORA2B was strongly expressed in the nucleus, perinucleus and the cytoplasm, and ADORA3 was expressed weakly in the cytoplasm of RPE. CONCLUSIONS: ADORs are expressed in human RPE. The different distribution at the subcellular level suggests different functions of ADOR subtypes.

Bone morphogenetic protein-2: a potential regulator in scleral remodeling.

PURPOSE: Bone morphogenetic protein 2 (BMP-2) is a member of the main subgroup of bone morphogenetic proteins within the transforming growth factor-beta superfamily. BMP-2 is involved in numerous cellular functions including development, cell proliferation, apoptosis, and extracellular matrix synthesis. We examined BMP-2 expression in human scleral fibroblasts (HSF) and assessed the effects of recombinant human BMP-2 (rhBMP-2) on HSF proliferation, matrix metalloproteinase-2 (MMP-2), and tissue inhibitor of metalloproteinase-2 (TIMP-2). METHODS: We used confocal fluorescence microscopy (CFM) to study BMP-2 distribution in HSF cells and frozen human scleral sections. The influence of rhBMP-2 on cell proliferation at different concentrations (0 ng/ml, 1 ng/ml, 10 ng/ml, and 100 ng/ml) was evaluated by the 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide (MTT) assay. The effects of rhBMP-2 on the cell cycle were investigated with flow cytometric analysis. Reverse transcription polymerase chain reaction (RT-PCR) and enzyme-linked immunosorbent assay (ELISA) were used to examine MMP-2 and TIMP-2 mRNAs and secreted proteins in HSF that were incubated with rhBMP-2. RESULTS: BMP-2 protein expression from human sclera was confirmed by CFM. Cell proliferation was significantly increased with 100 ng/ml rhBMP-2 in a time-dependent manner (p<0.05). The HSF cell cycle moved to the S and S+G(2)M phases after rhBMP-2 stimulation at 100 ng/ml compared to normal cells (p<0.05). TIMP-2 mRNA levels were significantly increased in HSF incubated for 24 h with 100 ng/ml rhBMP-2 (p<0.01). A 48 h incubation with 10 ng/ml or 100 ng/ml rhBMP-2 resulted in significantly increased TIMP-2 mRNA and protein expression and significantly decreased MMP-2 mRNA expression (p<0.01) while MMP-2 protein expression significantly decreased at 100 ng/ml rhBMP-2 (p<0.01). CONCLUSIONS: Human sclera fibroblasts expressed BMP-2, which promoted cell proliferation, and elicited changes in MMP-2 and TIMP-2, might influence extracellular matrix synthesis.