MDSCs promote pathological angiogenesis in ocular neovascular disease.

Background: Ocular neovascular diseases, which contribute significantly to vision loss, lack effective preventive treatments. Recent studies have highlighted the significant involvement of immune cells in neovascular retinopathy. Myeloid-derived suppressor cells (MDSCs) promote the development of neovascularization, but it is unknown whether they participate in pathological neovascularization and whether they are expected to be a therapeutic target.

Establishment of an iPSC line from a NDD patient with a heterozygous mutation in the CTNNB1 gene.

CTNNB1 encodes beta-catenin, which plays a crucial role in Wnt signaling pathway. Mutations in CTNNB1 involve in tumor developing, Primary Aldosteronism, Neurodevelopmental disorders (NDDs), etc. NDDs is a class of disorders that impact brain development and function, manifesting symptom including autism spectrum disorder (ASD), intellectual disability (ID), schizophrenia (SCZ), and epilepsy.

Spatiotemporal Characteristics and Risk Factors for All and Severity-Specific Preterm Births in Southern China, 2014-2021: Large Population-Based Study.

Background: The worldwide incidence of preterm births is increasing, and the risks of adverse outcomes for preterm infants significantly increase with shorter gestation, resulting in a substantial socioeconomic burden. Limited epidemiological studies have been conducted in China regarding the incidence and spatiotemporal trends of preterm births. Seasonal variations in risk indicate the presence of possible modifiable factors.

The prevalence of preterm and low birth weight infants among migrant women in the Pearl River Delta region, China: a population-based birth cohort study.

Background: The existing literature evaluating the association between neonatal morbidity and migrant status presents contradictory results. The purpose of this study was to compare the risk of preterm birth (PTB) and low birth weight (LBW) among newborns from local and migrant women in China's Pearl River Delta (PRD) region.

Methods: In this observational population-based study, we included all live singleton deliveries from PRD region local women and migrant women.

Two Chinese Patients of Auriculocondylar Syndrome 2: A Novel Splicing Variant and 5-Year Follow-up.

Objective: Auriculocondylar syndrome (ARCND) is a set of rare craniofacial malformations characterized by variable micrognathia, ear malformations, and mandibular condyle hypoplasia, and other accompanying features with phenotypic complexity. ARCND2 caused by pathogenic variants in the gene is a very rare disease with less than 50 patients reported and only 36 different variants of the gene recorded in HGMD. This study aims to enrich the patient resources, clinical data and mutational spectrum of ARCND2.

Extreme temperature exposure increases the risk of preterm birth in women with abnormal pre-pregnancy body mass index: a cohort study in a southern province of China.

Background: Prior literature has found that extreme temperature exposure is associated with preterm birth (PTB). However, current evidence provides heterogeneous conclusions, and data on extreme cold and across different pre-pregnancy body mass index (BMI) statuses are limited.

Methods: We conducted a population-based retrospective cohort of 251,257 women between 2014 and 2017 in Guangdong, China, to evaluate whether the association between extreme temperature exposure and PTB varied in pre-pregnancy BMI status.

Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking.

Biotinidase (BTD) deficiency (OMIM 253260) is an autosomal recessively inherited metabolic disorder resulting from deficient activity of the BTD enzyme, which can cleave and release biotin from a variety of biotin-dependent carboxylases, and is therefore recognized as a tool to recycle biotin. Being a condition caused by variations on gene with a consequence of free biotin shortage, BTD deficiency may impair the activity of biotin-dependent carboxylases, and thus bring about a buildup of potentially toxic compounds in the body, primarily 3-hydroxyisovaleryl-carnitine in plasma as well as 3-hydroxyisovaleric acid in urine. The phenotype of BTD deficiency may vary dramatically, from asymptomatic adults to severe neurological anomalies, even death in infancy.

Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.

Rare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result in significant morbidity in patients, but the causes are highly diverse. Precise molecular diagnosis will benefit management and genetic counseling. This study aims to share the diagnostic experience on a three-generation Chinese family with co-occurrence of spondyloepiphyseal dysplasia (SED) and X-linked hypophosphatemia (XLH), and evaluate the therapeutic effects of two third-generation siblings.

Impact of Changes in Early Respiratory Support Management on Respiratory Outcomes of Preterm Infants.

Background: In the period immediately after birth, preterm infants are highly susceptible to lung injury. Ventilator-induced lung injury has been recognized as a major contributing factor for bronchopulmonary dysplasia (BPD) in preterm infants. Noninvasive respiratory support (NIRS) could decrease lung injury, and early respiratory support management might affect pulmonary outcomes.

The Effect of STAT3 Signal Pathway Activation on Retinopathy of Prematurity.

To investigate the mechanism of activation of the signal transducer and activator of transcription 3 (STAT3) signal pathway in the process of retinopathy of prematurity (ROP). Sixty newborn Sprague-Dawley (SD) rats were randomly separated into the hyperoxia and air control groups ( = 30/in each group). The serum hepcidin level on 21 d was measured using the enzyme-linked immunosorbent assay (ELISA).

Effect of Probenecid on Endothelial Cell Growth Rate and Retinal Angiogenesis in an Oxygen-Induced Retinopathy Model.

Probenecid is an anion transport inhibitor, which, according to the connectivity map (CMap; a biological application database), interferes with hypoxia-induced gene expression changes in retinal vascular endothelial cells (ECs). Here, we investigated the influence of probenecid on retinal EC cytotoxicity and retinal neovascularization in a murine oxygen-induced retinopathy (OIR) model. The retinal EC growth rate in the presence of hypoxia-mimicking concentrations of cobalt chloride (CoCl) was determined using the thiazolyl blue tetrazolium bromide (MTT) assay and proliferating cell nuclear antigen (PCNA) expression.

Erythropoietin prevents LPS-induced preterm birth and increases offspring survival.

Problem: Preterm delivery is the leading cause of neonatal mortality and contributes to delayed physical and cognitive development in children. At present, there is no efficient therapy to prevent preterm labor. A large body of evidence suggests that infections might play a significant and potentially preventable cause of premature birth.

Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.

Johanson-Blizzard Syndrome (JBS) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, distinct abnormal facial appearance and varying degrees of growth retardation. Variants in UBR1 gene are considered to be responsible for the syndrome. Here, we describe a 3-year old boy, who visited our clinic for severe growth retardation and frequent oily diarrhea.

[Association of FokI rs2228570 and TMPRSS6 rs855791 polymorphisms with cow's milk protein allergy in children].

Objective: To study the association of polymorphisms of FokI rs2228570 in the vitamin D receptor (VDR) gene and TMPRSS6 rs855791 with cow's milk protein allergy (CMPA) in children.

Methods: Quantitative real-time PCR was used to analyze the single nucleotide polymorphisms of FokI rs2228570 in the VDR gene and TMPRSS6 rs855791 in 100 children with CMPA and 100 healthy children (control group). The multivariate logistic regression model was used to identify the risk factors for CMPA.

A systematic study on the prevention and treatment of retinopathy of prematurity in China.

Background: To identify the prevention situation, the main factors influencing prevention effects and to develop control measures over retinopathy of prematurity in China.

Methods: Using stratified random sampling method, we randomly selected 23 provincial and ministerial hospitals (8 in Guangdong province, 5 in Hunan province and 10 in Shaanxi province), 81 municipal hospitals (38 in Guangdong province, 19 in Hunan province and 24 in Shaanxi province), 180 district and county hospitals (76 in Guangdong province, 57 in Hunan province and 47 in Shaanxi province) in China. A total of 284 hospitals were enrolled in the study, with questionnaires distributed investigating the status and constrain factors of ROP presentation.

Anaesthesia modalities during laser photocoagulation for retinopathy of prematurity: a retrospective, longitudinal study.

Objectives: Laser photocoagulation surgery is a routine treatment for threshold retinopathy of prematurity (ROP). However, little is known about which anaesthesia protocols provide efficient pain control while minimising exposure risk to vulnerable infants. In this study, therefore, we assessed the efficacy and tolerability of multiple anaesthesia techniques used on premature infants during laser therapy.

A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.

Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies. Tracheal or laryngeal anomalies are reported as a common manifestation of T-CS. These anomalies can lead to respiratory distress and respiratory tract infection.

Systemic changes and adverse effects induced by retinopathy of prematurity screening.

Aim: To estimate the potential systemic events during and after retinopathy of prematurity (ROP) screening.

Methods: A prospective and descriptive designed study was conducted to detect the physiologic and pathological changes 24h before, during, and 72h after ROP screening. Control blood pressure (BP), saturation, pulse rate, and body temperature were routinely taken at various time internals before and after screening.

[Evaluation of white matter myelination in preterm infants using DTI and MRI].

Objective: To investigate the features of white matter myelin development in preterm infants using magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI).

Methods: A total of 31 preterm infants with a gestational age of ≤32 weeks and a birth weight of <1 500 g were enrolled. According to head MRI findings, these infants were divided into preterm group with brain injury (12 infants) and preterm group without brain injury (19 infants).

Identification of Iron Homeostasis Genes Dysregulation Potentially Involved in Retinopathy of Prematurity Pathogenicity by Microarray Analysis.

Retinopathy of prematurity (ROP) is a serious disease of preterm neonates and there are limited systematic studies of the molecular mechanisms underlying ROP. Therefore, here we performed global gene expression profiling in human fetal retinal microvascular endothelial cells (RMECs) under hypoxic conditions in vitro. Aborted fetuses were enrolled and primary RMECs were isolated from eyeballs.

[Clinical study of astragalus's preventing the recurrence of asthma in children].

Objective: To study the clinical efficacy of astragalus's preventing the recurrence and regulatory effects on Th1/Th2 cytokines in asthmatic children during the remission stage.

Methods: Ninety asthmatic children during the remission stage were assigned to the astragalus treatment group (Group A), the hormone treatment group (Group B), and the combined group of astragalus and hormone treatment (Group C), 30 in each. Thirty healthy children were set up as the control group.

Isolation and characterization of fetus human retinal microvascular endothelial cells.

Purpose: To isolate and characterize primary fetus retinal microvascular endothelial cells (RMECs) in order to facilitate the study of their properties in vitro.

Methods: Human RMECs were isolated from abortive fetuses whose gestational ages were between 20 and 28 weeks by mechanical morcel and trypsin-collagenase digestion, plated on fibronectin-coated wells and purified gradually in high-selective condition. The RMECs were characterized for expression and localization of endothelial cell markers by indirect immunocytochemical staining of von Willebrand factor (vWF) and CD34, the distribution of cell markers was observed by confocal immunofluorescence microscope.

[Effect of vascular endothelial growth factor small interfering RNA (siRNA) on retinal microvascular endothelial cells under hypoxia condition in vitro].

Objective: To explore VEGF siRNA's effect on the immature fetal retinal microvascular endothelial cells in vitro.

Method: The fresh retinal micrangium was primarily cultured to obtain microvascular endothelial cells. CoCl2 was used to simulate oxygen-deficient conditions.

[Expression and action of vascular endothelial growth factor and its receptor in a rat model of retinopathy of prematurity].

Objective: To explore the expression of vascular endothelial growth factor (VEGF) and its receptors (flt-1 and flk-1) in the retina of retinopathy of prematurity (ROP), and its relation to the alteration of retinal blood vessels.

Methods: Eighty-six newborn Sprague-Dawley rats were randomly divided into hyperoxia and air groups, then each group was further divided into 1, 3, 7 and 14 days subgroups. The rats in hyperoxia group inhaled 75% oxygen and ROP model was thus set up.