Efficacy of indirect intense pulsed light irradiation on meibomian gland dysfunction: a randomized controlled study.

Aim: To investigate the efficacy and mechanisms of indirect intense pulsed light (IPL) irradiation on meibomian gland dysfunction (MGD).

Methods: A total of 60 MGD patients was included in this prospective randomized controlled trial. Patients were randomly assigned 1:1 into two groups (3-mm group and 10-mm group) in which IPL was applied at distances from the lower eyelid margin of 3 and 10 mm, respectively.

The effect of type 2 diabetes mellitus on lid wiper epitheliopathy and ocular surface parameters.

Introduction: This cross-sectional study was conducted to investigate the impact of type 2 diabetes mellitus(DM) and its duration on indicators such as lid wiper epitheliopathy(LWE), and to assess the significance of LWE for early diagnosis of dry eye disease(DED) in DM patients.

Methods: A total of 137 subjects with ocular surface disease index(OSDI) score ≥13 were divided into the non-DM group, the short-term DM group (duration <5 years), and the mid-to-long-term DM group(duration ≥5 years). Evaluations were conducted for LWE, OSDI, lipid layer thickness (LLT), partial blinking rate (PBR), fluorescein tear breakup time (FTBUT), corneal fluorescein staining score (CFS), eyelid margin score, and meibomian gland dropout (MGd).

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.

Background: The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was used to investigate the characteristics of cell subsets in the lesion tissues of CH patients.

Methods: Lymphoid tissue collected from CH patients and control donors for scRNA-seq analysis.

Insulin eye drops improve corneal wound healing in STZ-induced diabetic mice by regulating corneal inflammation and neuropeptide release.

Introduction: In recent years, insulin eye drops have attracted increasing attention from researchers and ophthalmologists. The aim of this study was to investigate the efficacy and possible mechanism of action of insulin eye drops in diabetic mice with corneal wounds.

Methods: A type 1 diabetes model was induced, and a corneal epithelial injury model of 2.

Association between dyslipidaemia and dry eye disease: a systematic review and meta-analysis.

Purpose: To report a systematic review and meta-analysis of the association between dry eye disease (DED) and dyslipidaemia.

Methods: PubMed, Embase, Web of Science and Cochrane Library were systematically searched from January 2000 to December 2021. We included observational studies to assess the correlation of DED with meibomian gland dysfunction and dyslipidaemia without any language restrictions.

Genetic causes of isolated and severe fetal growth restriction in normal chromosomal microarray analysis.

Objective: To investigate the genetic burden in fetuses with isolated and severe fetal growth restriction (FGR) using Trio whole-exome sequencing (WES) with a normal chromosomal microarray.

Method: This retrospective study analyzed WES results of singleton fetuses with isolated and severe FGR, whose estimated fetal weight (EFW) was less than the third percentile by Hadlock formula, in a tertiary center between March 2016 and March 2022. Cases with abnormal chromosomal microarray analysis (CMA) and TORCH results were excluded.

Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.

Background: Exome sequencing (ES) is becoming more widely available in prenatal diagnosis. However, data on its clinical utility and integration into clinical management remain limited in practice. Herein, we report our experience implementing prenatal ES (pES) in a large cohort of fetuses with anomalies detected by ultrasonography using a hospital-based in-house multidisciplinary team (MDT) facilitated by a three-step genotype-driven followed by phenotype-driven analysis framework.

Case report: A novel mosaic nonsense mutation of in a Chinese male with febrile epilepsy.

The clinical features of the gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males with the mosaic mutation of . This study reported a novel, , and mosaic nonsense mutation (NM_001184880: c.840C > A, p.

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.

Background: There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and describe the prenatal ultrasound performance of this syndrome.

Methods: In this retrospective study, we reported eight cases of Williams-Beuren syndrome diagnosed at our prenatal diagnostic center from 2016 to 2021.

Indirect Application of Intense Pulsed Light Induces Therapeutic Effects on Experimental Murine Meibomian Gland Dysfunction.

Purpose: To investigate the indirect effects of intense pulsed light (IPL) on morphological and pathological changes of the meibomian glands (MGs) in apolipoprotein E knockout ( ) mice and explore the underlying mechanisms.

Methods: mice were treated with or without IPL three times below the lower eyelids and MGs were not directly exposed to irradiation. The eyelids and ocular surface were observed under a stereoscope.

The Role of Neutrophil Extracellular Traps in the Ocular System.

Neutrophils remain at the top of congenital and adaptive immune systems. The past 20 years witnessed a steep rise in the interest in neutrophil extracellular traps (NETs), which are a novel type of anti-pathogen mechanism coordinated with neutrophils. However, accumulating data revealed that excessive NETs in the host were associated with exacerbated inflammation, thrombosis, and autoimmunity.

Case Report: Two Novel Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus.

L1 cell adhesion molecule is a type I transmembrane glycoprotein belonging to the immunoglobulin superfamily. Pathogenic mutations of can cause L1 syndrome, referred to as a variety of disease spectrums characterized by hydrocephalus. In the present study, we reported two novel variants of in two unrelated Chinese families with fetal hydrocephalus history.

The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study.

To evaluate the utility of a chromosomal microarray (CMA) in fetuses with isolated fetal growth restriction (FGR) and explore risk factors for the prediction of chromosomal aberration and perinatal adverse outcomes. This study included 271 fetuses of estimated fetal weight less than the 3rd percentile without other structural malformation. Early-onset and late-onset FGR were defined as gestational weeks less than 32 weeks and more than 32 weeks respectively.

Identification of Alternative Splicing and LncRNA Genes in Brain Tissues of Fetal Mice at Different Developmental Stages.

Background: Brain development is an extremely complex and precisely regulated process, with about one-third of genes expressed and precisely regulated during brain development.

Objective: This study aims to explore the molecular mechanisms involved in brain development.

Methods: We first established the expression profile of long non-coding RNAs (lncRNAs) and mRNAs in brain tissues of fetal mice at 12.

Prenatal exome sequencing in fetuses with callosal anomalies.

Objective: We aimed to investigate the value of exome sequencing (ES) in fetuses with callosal anomalies (CA) with or without other structural anomalies, but with normal findings by karyotyping and chromosome microarray analysis (CMA).

Methods: Cases with CA with or without other structural anomalies were screened for eligibility. Fetuses with abnormal karyotyping or CMA results were excluded.

The Application of Crown-Chin Length to Crown-Rump Length Ratio in Predicting Fetal Skeletal Dysplasia at First Trimester.

Objective: To examine the feasibility of using crown-chin length (CCL) to crown-rump length (CRL) ratio in screening for skeletal dysplasia in the first trimester.

Methods: Four hundred and eighteen singleton pregnant women were recruited and the ratio of CCL to CRL was calculated according to gestational age. Fetuses with skeletal dysplasia were collected from database in the last 10 years.

Metal complexes against breast cancer stem cells.

With the highest incidence, breast cancer is the leading cause of cancer deaths among women in the world. Tumor metastasis is the major contributor of high mortality in breast cancer, and the existence of cancer stem cells (CSCs) has been proven to be the cause of tumor metastasis. CSCs are a small proportion of tumor cells, and they are associated with self-renewal and tumorigenic potential.

Ruthenium Complexes as Promising Candidates against Lung Cancer.

Lung cancer is one of the most common malignancies with the highest mortality rate and the second-highest incidence rate after breast cancer, posing a serious threat to human health. The accidental discovery of the antitumor properties of cisplatin in the early 1960s aroused a growing interest in metal-based compounds for cancer treatment. However, the clinical application of cisplatin is limited by serious side effects and drug resistance.

Fetal Crown-Chin Length to Crown-Rump Length Ratio as a Prenatal Sonographic Marker for Triploidy at First Trimester.

Objectives: To investigate the ratio of Crown to Chin length (CCL) to Crown-rump length (CRL) between triploid and normal fetuses at first trimester and establish a reference range of fetal CCL/CRL ratio.

Methods: Three hundred and twenty-five normal and 12 triploid fetuses were reviewed in this study. The image of fetal Crown-rump length (CRL) was acquired retrospectively.