Repeated Low-Level Red-Light Therapy for Myopia Control in High Myopia Children and Adolescents: A Randomized Clinical Trial.

OBJECTIVE: To assess the effectiveness and safety of repeated low-level red light (RLRL), which is a newly available treatment for myopia control in children and adolescents with high myopia. DESIGN: Multicenter, randomized, parallel-group, single-blind clinical trial (RCT; NCT05184621). PARTICIPANTS: Between February 2021 and April 2022, 192 children aged 6 to 16 years were enrolled. Each child had at least one eye with myopia of cycloplegic spherical equivalent refraction (SER) at least -4.0 diopters, astigmatism of 2.0 diopters or less, anisometropia of 3.0 diopters or less, and best-corrected visual acuity of 0.2 logarithm of the minimum angle of resolution or better. Follow-up was completed by April 2023. METHODS: Participants were randomly assigned at a 1:1 ratio to intervention (RLRL treatment plus single-vision spectacles) or control (single-vision spectacles) groups. The RLRL treatment was administered for 3 minutes per session, twice daily with a minimum interval of 4 hours, 7 days per week. MEAN OUTCOMES AND MEASURES: The primary outcome and key secondary outcome were changes in axial length and cycloplegic SER measured at baseline and the 12-month follow-up visit. Participants who had at least 1 post randomization follow-up visit were analyzed for treatment efficacy. RESULTS: Among 192 randomized participants, 188 (97.91%) were included in the analyses (97 in the RLRL group and 95 in the control group). After 12 months, the adjusted mean change in axial length was -0.06 mm (95% confidence interval [CI]: -0.10 to -0.02 mm) and 0.34 mm (95% CI: 0.30 to 0.39 mm) in the intervention and control groups, respectively. There were 48 participants (50.3%) of the intervention group were still experiencing axial shortening more than 0.05mm at 12-month follow-up. Furthermore, the mean spherical equivalent refraction change after 12 months was 0.11 D (95% CI: 0.02 to 0.19 D) and -0.75 D (95% CI: -0.88 to -0.62 D) in the intervention and control groups, respectively. CONCLUSIONS: RLRL demonstrates much stronger treatment efficacy among high myopia, with 50.3% experience substantial axial shortening. RLRL provides an excellent solution for the management of high myopia progression, a significant challenge in ophthalmology practice.

Health-related quality of life measurements in children and adolescents with refractive errors: A scoping review.

Background: Refractive errors, particularly myopia, are the leading visual disorders worldwide, significantly affecting the quality of life (QOL) even after correction. This scoping review focuses on health-related quality of life (HRQOL) measurements for children and adolescents with refractive errors. Main text: We explored generic and disease-specific HRQOL tools, examining their content, psychometric properties, and the impact of various interventions on QOL. Two English databases-PubMed, Embase, and one Chinese database, CNKI, were searched for relevant studies published from January 2001 to October 2023. Inclusion criteria encompassed studies using standardized instruments to assess the QOL of children aged 0-18 with refractive errors. The review compares prevalent HRQOL measurements, analyzes children's refractive error assessments, and discusses intervention effects on patient QOL. Conclusions: The study underlines the necessity of developing disease-specific QOL instruments for very young children and serves as a practical guide for researchers in this field. The findings advocate for a targeted approach in HRQOL assessment among the pediatric population, identifying critical gaps in current methodologies.

The Effect of Kangaroo Mother Care After Duodenal Obstruction in Neonates.

Objective: The present study aimed to explore the effectiveness of clinical application of kangaroo mother care (KMC) in neonates after surgery for duodenal obstruction in achieving total enteral nutrition (TEN) and shortening the length of hospital stay. Methods: A prospective study of 60 cases of surgery for duodenal obstruction in pediatric patients in the neonatal intensive care unit of Kunming Children's Hospital between January 2018 and December 2019 was conducted. The study subjects included 15 cases with intestinal malrotation, 18 cases with circular pancreas, 10 cases with a duodenal septum, and 17 cases with duodenal atresia or duodenal stenosis. According to the single and double numbers of the operation date, the subjects were randomly divided into the control group and observation group, with 30 cases in each group. The conventional care of enhanced recovery after surgery (ERAS) was carried out in the control group, and KMC based on ERAS conventional care was implemented in the observation group. The difference in the duration to achieve TEN and the length of hospital stay between the two groups of patients after care was compared and analyzed. Results: The average duration to achieve TEN for neonates with duodenal obstruction in the control group was 14.23 ± 3.17 days, while that in the observation group was 12.27 ± 1.15 days. The average length of hospital stay in the control group was 17.22 ± 4.71 days, while that in the observation group was 13.34 ± 2.70 days. There was a significant difference in the duration to achieve TEN and the average length of hospital stay between the two groups (P < 0.05). The duration to achieve TEN and the length of hospital stay in pediatric patients were significantly shorter in the observation group than in the control group. Conclusion: Kangaroo mother care has important clinical significance and application value in shortening the duration to achieve TEN and the length of hospital stay in neonates after surgery for duodenal obstruction.

A novel cataract-causing mutation Ile82Met of γA crystallin trends to aggregate with unfolding intermediate.

Cataract is the most common pathogenic ophthalmic disease leading to blindness in children worldwide. Genetic disorder is the leading cause of congenital cataract, among which crystallin mutations have a high incidence. There are few reports on γA-crystallin, one critical member of crystallin superfamilies. In this study, we identified a novel pathogenic mutation (Ile82Met) in γA-crystallin from a three-generation Chinese family with cataract, and investigated the potential molecular mechanism in detail. To elucidate the pathogenic mechanism of I82M mutant, spectroscopic and solubility experiments were performed to determine the difference between the purified γA-crystallin wild type (WT) and I82M mutant under both physiological conditions and environmental stresses (UV irradiation, thermal denaturation or chemical denaturation). The I82M mutant did not affect the secondary/tertiary structure of monomeric γA-crystallin under physiological status, but decreased protein stability and increased aggregatory potency under the stressful treatment. Surprisingly, the chemical denaturation caused I82M to switch from the two-state unfolding of γA-crystallin to three-state unfolding involving an unfolding intermediate. This study expands the genetic variation map of cataract, and provides novel insights into the pathomechanism, in particular, filling in a gap in the understanding of γA-crystallin mutants causing cataract.

Majorbio Cloud: A one-stop, comprehensive bioinformatic platform for multiomics analyses.

The platform consists of three modules, which are pre-configured bioinformatic pipelines, cloud toolsets, and online omics' courses. The pre-configured bioinformatic pipelines not only combine analytic tools for metagenomics, genomes, transcriptome, proteomics and metabolomics, but also provide users with powerful and convenient interactive analysis reports, which allow them to analyze and mine data independently. As a useful supplement to the bioinformatics pipelines, a wide range of cloud toolsets can further meet the needs of users for daily biological data processing, statistics, and visualization. The rich online courses of multi-omics also provide a state-of-art platform to researchers in interactive communication and knowledge sharing.

Conjunctival granulomatous capillary haemangioma in children: case report and review of the literature.

BACKGROUND: Granulomatous capillary haemangioma refers to a benign vascular tumour that commonly affects the skin, with occasional involvement of the mucosa. Reports of conjunctival granulomatous capillary haemangioma in children are uncommon. In this article, we present a case of granulomatous capillary haemangioma and a brief review of the relevant literature. CASE PRESENTATION: An 11-year-old girl presented with a conjunctival mass. An excision of the entire lesion was performed. Histopathology showed a granulomatous capillary haemangioma. CONCLUSIONS: The clinical manifestations of granulomatous capillary haemangioma lack specificity; pathological characteristics and immunohistochemistry are the main basis for diagnosis. We retrospectively analysed the diagnosis and treatment of a patient with conjunctival granulomatous capillary haemangioma to deepen the understanding and facilitate the diagnosis and treatment of this disease.

Lacrimal sac bacteriology and susceptibility pattern in infants with congenital nasolacrimal duct obstruction in the 1st year of life: a cross-sectional study.

BACKGROUND: Congenital nasolacrimal duct obstruction (CNLDO) is one of the main causes of epiphora in infants, and antibiotics are usually used as a conservative therapy in the first year. Yet, little is known about the bacteriology of the occluded lacrimal drainage system in this group of patients. The aim of this study was to evaluate the microbiology of lacrimal sac (LS) in Chinese children with CNLDO in their first year of life. METHODS: Patients with CNLDO between May 1, 2017 and August 31, 2018 at a tertiary care children's hospital were enrolled. The study recruited infants who received lacrimal probing under 1 year old, and refluxed discharge from LS was collected. Samples were cultured and susceptibility test was performed for positive culture. RESULTS: Thirty-two patients with CNLDO were included. The ratio of male to female was 23:9. The mean age was 6.7 ± 2.4 (1.7-12) months. Positive cultures was identified in 87.5% of the sample, and presented 38 strains of bacteria. Mixed infection was identified in 10 (31.3%) children. Gram-positive bacteria accounted for 60.5% of all the strains, with Streptococcus (50%) being the most frequent species, whereas Haemophilus (21.1%) and Neisseriae (13.2%) were most common isolates for Gram-negative organisms. Methicillin-resistant Staphylococcus aureus (MRSA) was detected in 2 infants whose symptoms resolved by a routine probing. No difference of bacteriology pattern was detected between patients under 6 months old and those beyond. The pathogens were highly sensitive to chloramphenicol (88%) and levofloxacin (84%), but resistant to erythromycin (40%) and sulfamethoxazole (32%). CONCLUSIONS: Infants with CNLDO under 1 year of age presented predominance of Streptococcus as Gram-positive organism, and Haemophilus as Gram-negative organism. Levofloxacin was an active topical antibiotic agent with few chance of resistance especially for Chinese children. These findings could help clinicians choose optimal medicine for CNLDO as the conservative treatments.

Root Transcriptomic Analysis Revealing the Importance of Energy Metabolism to the Development of Deep Roots in Rice (Oryza sativa L.).

Drought is the most serious abiotic stress limiting rice production, and deep root is the key contributor to drought avoidance. However, the genetic mechanism regulating the development of deep roots is largely unknown. In this study, the transcriptomes of 74 root samples from 37 rice varieties, representing the extreme genotypes of shallow or deep rooting, were surveyed by RNA-seq. The 13,242 differentially expressed genes (DEGs) between deep rooting and shallow rooting varieties (H vs. L) were enriched in the pathway of genetic information processing and metabolism, while the 1,052 DEGs between the deep roots and shallow roots from each of the plants (D vs. S) were significantly enriched in metabolic pathways especially energy metabolism. Ten quantitative trait transcripts (QTTs) were identified and some were involved in energy metabolism. Forty-nine candidate DEGs were confirmed by qRT-PCR and microarray. Through weighted gene co-expression network analysis (WGCNA), we found 18 hub genes. Surprisingly, all these hub genes expressed higher in deep roots than in shallow roots, furthermore half of them functioned in energy metabolism. We also estimated that the ATP production in the deep roots was faster than shallow roots. Our results provided a lot of reliable candidate genes to improve deep rooting, and firstly highlight the importance of energy metabolism to the development of deep roots.

Significant variations in alternative splicing patterns and expression profiles between human-mouse orthologs in early embryos.

Human and mouse orthologs are expected to have similar biological functions; however, many discrepancies have also been reported. We systematically compared human and mouse orthologs in terms of alternative splicing patterns and expression profiles. Human-mouse orthologs are divergent in alternative splicing, as human orthologs could generally encode more isoforms than their mouse orthologs. In early embryos, exon skipping is far more common with human orthologs, whereas constitutive exons are more prevalent with mouse orthologs. This may correlate with divergence in expression of splicing regulators. Orthologous expression similarities are different in distinct embryonic stages, with the highest in morula. Expression differences for orthologous transcription factor genes could play an important role in orthologous expression discordance. We further detected largely orthologous divergence in differential expression between distinct embryonic stages. Collectively, our study uncovers significant orthologous divergence from multiple aspects, which may result in functional differences and dynamics between human-mouse orthologs during embryonic development.

Frosted Branch Angiitis in Pediatric Dyskeratosis Congenita: A Case Report.

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome, usually presented with abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. The main cause of mortality in DC is immunodeficiency and vital infection. DC involves multisystem, but retinal involvements are rare.Herein, we report an unusual case of pediatric DC suffering from frosted branch angiitis (FBA) after recovery of mycoplasma pneumonia. Cytomegalovirus infection and cytokine changes were found relevant to the onset of FBA. Despite corticosteroids, antiviral medication, and hematopoietic stem cell transplantation, the patient ended in poor vision with optic atrophy.This case implies that pediatricians should be aware of FBA as a rare retinal manifestation in children with DC and bone marrow failure. Cytomegalovirus may be one of the common causes and cytokines could be triggering factors.

Effects of medication methods after simple and effective probing of lacrimal passage.

AIM: To evaluate the effect of reducing the use of antibiotics in the treatment of infant bacterial dacryocystitis after probing of the lacrimal duct. METHODS: A total of 542 cases of children under one year old and accepting nasolacrimal duct probing treatment were divided into two groups, which were treated with topical and oral antibiotics, respectively. Conjunctival sac secretions were used as a control index of bacterial infection, whereas the disappearance of epiphora symptoms and lacrimal passage patency were used as cure indexes. The χ (2) test was used to compare enumeration and measurement data, and a statistical significance was set at P<0.05. The therapeutic effect on the two groups of postoperative patients was investigated. RESULTS: In the two study groups, no significant differences in gender, age and postoperative control of lacrimal sac infection were observed. The cure rates after three probing operations also showed no significant difference. CONCLUSION: After probing of the lacrimal passage, results of this study confirmed that postoperative medication without oral antibiotics but an ophthalmic dosage of antibiotics was a simple and effective treatment method.

Dissecting the Characteristics and Dynamics of Human Protein Complexes at Transcriptome Cascade Using RNA-Seq Data.

Human protein complexes play crucial roles in various biological processes as the functional module. However, the expression features of human protein complexes at the transcriptome cascade are poorly understood. Here, we used the RNA-Seq data from 16 disparate tissues and four types of human cancers to explore the characteristics and dynamics of human protein complexes. We observed that many individual components of human protein complexes can be generated by multiple distinct transcripts. Similar with yeast, the human protein complex constituents are inclined to co-express in diverse tissues. The dominant isoform of the genes involved in protein complexes tend to encode the complex constituents in each tissue. Our results indicate that the protein complex dynamics not only correlate with the presence or absence of complexes, but may also be related to the major isoform switching for complex subunits. Between any two cancers of breast, colon, lung and prostate, we found that only a few of the differentially expressed transcripts associated with complexes were identical, but 5-10 times more protein complexes involved in differentially expressed transcripts were common. Collectively, our study reveals novel properties and dynamics of human protein complexes at the transcriptome cascade in diverse normal tissues and different cancers.

Comprehensively identifying and characterizing the missing gene sequences in human reference genome with integrated analytic approaches.

The human reference genome is still incomplete and a number of gene sequences are missing from it. The approaches to uncover them, the reasons causing their absence and their functions are less explored. Here, we comprehensively identified and characterized the missing genes of human reference genome with RNA-Seq data from 16 different human tissues. By using a combined approach of genome-guided transcriptome reconstruction coupled with genome-wide comparison, we uncovered 3.78 and 2.37 Mb transcribed regions in the human genome assemblies of Celera and HuRef either missed from their homologous chromosomes of NCBI human reference genome build 37.2 or partially or entirely absent from the reference. We further identified a significant number of novel transcript contigs in each tissue from de novo transcriptome assembly that are unalignable to NCBI build 37.2 but can be aligned to at least one of the genomes from Celera, HuRef, chimpanzee, macaca or mouse. Our analyses indicate that the missing genes could result from genome misassembly, transposition, copy number variation, translocation and other structural variations. Moreover, our results further suggest that a large portion of these missing genes are conserved between human and other mammals, implying their important biological functions. Totally, 1,233 functional protein domains were detected in these missing genes. Collectively, our study not only provides approaches for uncovering the missing genes of a genome, but also proposes the potential reasons causing genes missed from the genome and highlights the importance of uncovering the missing genes of incomplete genomes.

Incorporating the human gene annotations in different databases significantly improved transcriptomic and genetic analyses.

Human gene annotation is crucial for conducting transcriptomic and genetic studies; however, the impacts of human gene annotations in diverse databases on related studies have been less evaluated. To enable full use of various human annotation resources and better understand the human transcriptome, here we systematically compare the human annotations present in RefSeq, Ensembl (GENCODE), and AceView on diverse transcriptomic and genetic analyses. We found that the human gene annotations in the three databases are far from complete. Although Ensembl and AceView annotated more genes than RefSeq, more than 15,800 genes from Ensembl (or AceView) are within the intergenic and intronic regions of AceView (or Ensembl) annotation. The human transcriptome annotations in RefSeq, Ensembl, and AceView had distinct effects on short-read mapping, gene and isoform expression profiling, and differential expression calling. Furthermore, our findings indicate that the integrated annotation of these databases can obtain a more complete gene set and significantly enhance those transcriptomic analyses. We also observed that many more known SNPs were located within genes annotated in Ensembl and AceView than in RefSeq. In particular, 1033 of 3041 trait/disease-associated SNPs involved in about 200 human traits/diseases that were previously reported to be in RefSeq intergenic regions could be relocated within Ensembl and AceView genes. Our findings illustrate that a more complete transcriptome generated by incorporating human gene annotations in diverse databases can strikingly improve the overall results of transcriptomic and genetic studies.

[Analysis on the result of retinopathy of prematurity screening in 1225 premature infants].

OBJECTIVE: To investigate the factors involved in the development of retinopathy of prematurity (ROP), and to provide the preliminary data for the evaluation of current criteria for ROP screening. METHOD: Premature infants with birth body weight (BBW) ≤ 2000 g or gestational age (GA) ≤ 34 weeks in the two hospitals in Zhejiang between March 2005 and November 2008 were recruited and examined by indirect ophthalmoscopy. The records were analyzed. RESULT: One thousand two hundred and twenty-five premature infants were included. Of them, 713 were male and 512 female. There were 179 twins and 21 triplets in the premature infants. The incidence of ROP was 10.8% (132 in 1225 patients). There were 12 cases (0.98%) to the point of pre threshold ROP. 4 cases (0.3%) developed threshold ROP. Only one case developed pre threshold ROP of low risk among 65 cases without history of oxygen treatment (1.5%). The percentage has significant difference compared to that of cases with history of oxygen (χ(2) = 5.115, P < 0.01).Between ROP and Non-ROP groups, there was significant difference in BBW(F = 26.39, P < 0.001), gestational age (F = 19.73, P < 0.001), but there was no significant difference in sex (χ(2) = 0.279, P > 0.05) or twins and triplets (χ(2) = 3.449, P > 0.05). The incidence of ROP among premature infants with BBW ≤ 1000 g was more than three times of that with BBW > 1000 g, and the incidence of ROP among premature infants with GA ≤ 28 weeks was about 2.5 times of that with GA > 28 weeks. Logistic regression analysis indicated that less BBW or shorter GA or undulation of blood oxygen concentration was a significant risk factor involved in the development of ROP (r = 0.57, P < 0.05). All ROP patients were cured. CONCLUSION: Less BBW, shorter GA and undulation of blood oxygen concentration are the important risk factors for the development of ROP. Premature infants with BBW ≤ 1000 g or GA ≤ 28 weeks, who had oxygen history, should be given very special attention in the ROP screening. The current criteria for ROP screening should be narrowed. In general, the ROP screening has lowered the incidence of blindness among children by investigating and treating ROP timely.