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. Data were sourced from the Guangdong Medical Birth Registry Information System between Jan 1, 2014, and Dec 31, 2020. Women were categorized into three groups by maternal migrant status: local women from PRD region, migrant women from Guangdong province or from other provinces. The outcome variables that were examined included two adverse birth outcomes: PTB and LBW. The association between the risk of PTB and LBW and maternal migrant status was assessed using logistic regression. RESULTS: During 2014-2020, 5,219,133 single live deliveries were recorded, corresponding 13.22% to local women and the rest to migrant women coming from Guangdong (53.51%) and other provinces (33.26%). PTB prevalence was highest among local women (5.79%), followed by migrant women from Guangdong (5.29%), and the lowest among migrants from other provinces (4.95%). This association did not change after including maternal age, infant sex, delivery mode, and birth season in the models. Compared to local women, migrant women from other provinces had a lower risk of LBW (4.00% vs. 4.98%, P < 0.001). The prevalence of PTB and LBW was higher among local women than migrants. The odds of delivery PTB and LBW were higher for women who were age ≥ 35. Among the three maternal migration groups, the age-LBW association displayed a typical U-shaped pattern, with those in the youngest (16-24 years) and oldest (≥ 35) age categories exhibiting the higher odds of delivering a LBW neonate. With respect to infant sex, the prevalence of PTB was significantly higher in males than females among the three maternal migration groups. An opposite trend was found for LBW, and the prevalence of LBW was higher in females among the three maternal migration groups. CONCLUSION: The findings of this study contribute to the understanding of the epidemiology of PTB and LBW among migrant women. Our study suggests that it is the health and robust nature of migrant mothers that predisposes them to better birth outcomes. It is important to recognize that the results of this study, while supportive of the healthy migrant effect, cannot be considered definitive without some exploration of motivation for moving and changes in lifestyle postmigration.

Two Chinese Patients of Auriculocondylar Syndrome 2: A Novel PLCB4 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 PLCB4 gene is a very rare disease with less than 50 patients reported and only 36 different variants of the PLCB4 gene recorded in HGMD. This study aims to enrich the patient resources, clinical data and mutational spectrum of ARCND2. DESIGN: Case series study. SETTING: Guangzhou Women and Children's Medical Center and Guangdong Women and Children Hospital. PATIENTS: Two Chinese patients with ARCND2. MAIN OUTCOME MEASURES: Clinical, radiological and molecular findings. RESULTS: Both the two patients presented with craniofacial and ear malformations, and feeding difficulties. Whole exome sequencing identified two different variants of the PLCB4 gene in these two patients with a heterozygous allele and a de novo mode of inheritance respectively. Patient 1 carried a known pathogenic c.1861C > T(p.Arg621Cys) missense variant, whereas Patient 2 had a novel c.225 + 1G > A splicing variant. Sanger sequencing confirmed the presence of PLCB4 variants in the proband and absence in the unaffected parents. These two PLCB4 variants were suggested as disease-causing candidates for these two patients. During a 5-year follow-up, Patient 2 gradually manifested crowded teeth, underweight, motor delay and intellectual disability. CONCLUSIONS: In this study, we report two Chinese patients with ARCND2, describe their clinical and mutational features, and share a 5-year follow-up of one patient. Our study adds two additional patients to ARCND2, reveals a novel PLCB4 variant, and expands the phenotypic and genotypic spectrum.

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. Participants were divided into three categories based on pre-pregnancy BMI: underweight (BMI < 18.5 kg/m2), normal weight (18.5-23.9 kg/m2), overweight or obesity (≥ 24.0 kg/m2). We fitted Cox proportional hazards models to assess the association between daily mean temperature and PTB at each trimester for each BMI category separately. The hazard ratios (HRs) at the 5th and 95th percentiles of temperature (defined as low and high temperatures respectively) were provided using the median temperature at each trimester as a reference. Results: 58,220 (23.2%) were underweight, and 27,865 (11.1%) were overweight or obese. Of the 251,257 women, 18,612 (7.41%) had PTB delivery. Both low-and high-temperature exposure increased the risk of PTB in the third trimester, while cold exposure mostly mitigated the risk for the first and second trimesters. The association with low temperature was the strongest in the third trimester, especially for underweight women (HR: 1.825; 95%CI: 1.529 ~ 2.179), while the association with high temperature was the strongest also in the third trimester, especially for obese or overweight women (HR:1.825; 95%CI:1.502 ~ 2.218). Furthermore, the attributable fractions of PTB risk in the third trimester were estimated as 5.59% (95% CI: 3.58, 7.98%) for cold exposure among underweight women and 3.31% (95% CI: 2.01, 4.88%) for hot exposure among overweight or obese women. Conclusion: Exposure to either low temperature in the third trimester or high temperature during pregnancy was associated with a higher risk of PTB. Moreover, pre-pregnancy BMI status might affect the susceptibility of pregnant women. Such findings would be useful to develop targeted measures for vulnerable populations.

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. The proband, his younger brother, and mother presented with short stature, skeletal problems, and hypophosphatemia. His father, paternal grandfather, and aunt also manifested short stature and skeletal deformities. Whole exome sequencing (WES) of proband-brother-parents initially only found the proband and his younger brother had a pathogenic c.2833G > A(p.G945S) variant in the COL2A1 gene inherited from their father. Re-analysis of WES uncovered the proband and his younger brother also harbored a pathogenic ex.12 del variant in the PHEX gene transmitted from their mother. Sanger sequencing, agarose gel electrophoresis, and quantitative polymerase chain reaction proved these results. The proband and his younger brother were confirmed to have a paternally inherited SED and a maternally inherited XLH. During a 2.8-year follow-up, these two siblings remained short stature and hypophosphatemia, but their radiographic signs and serum bone alkaline phosphatase levels were improved with treatment of oral phosphate and calcitriol. Our study presents the first report of co-occurrence of SED and XLH, shows the possibility that two different rare GSDs co-exist in a single patient, and alerts clinicians and geneticists to be cautious about this condition. Our study also suggests that next-generation sequencing has limit in detecting exon-level large deletions.

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 BTD 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. In the present study, we reported on a 5-month-old boy, whose parents sought for medical consultation in our clinic for their son due to his loss of consciousness, repeated tetany, and motor retardation. Detailed clinical features included severe psychomotor retardation, hypotonia, as well as failure to thrive. The brain MRI at 12 months showed cerebellar hypoplasia and multiple foci of leukodystrophy. The result of antiepileptic therapy was not satisfying. During hospitalization, BTD deficiency was suggested by elevated concentration of 3-hydroxyisovaleryl-carnitine in the blood spots and 3-hydroxyisovaleric acid in the urine. The child was then diagnosed with profound BTD deficiency based on the above findings and low BTD enzyme activity. Subsequent mutational analysis revealed a novel homozygous variant, c.637_637delC (p.H213Tfs*51) in exon 4 of BTD gene in the proband, which was recognized as a further support to the diagnosis. Therefore, biotin treatment was started immediately, eventually with satisfactory outcomes achieved in terms of prevention of epileptic seizure, performance in deep tendon reflexes, and improvement of muscular hypotonia, but unfortunately, the therapy failed to show any evident effects on poor feeding and intellectual disability. This painful lesson suggests that newborn screening for inherited metabolic diseases is essential for early identification and treatment, which should have been performed in this case to avoid this tragedy.

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. We conducted a study to evaluate the changes in early respiratory support management and their impact on respiratory outcome and complications of preterm infants in 3 different time periods over the last 13 years. METHODS: This study was a retrospective, single-center cohort study. We retrospectively reviewed the medical records of preterm infants < 32 weeks of gestational age born in our hospital from 2007-2020. The study period was divided into three 3-y discrete periods: 2007-2009 (period A), 2013-2015 (period B), and 2018-2020 (period C). Changes in early respiratory support management were assessed in the 3 periods. The outcomes measured included mortality, BPD, other major neonatal complications, initial respiratory support, and duration of mechanical ventilation. RESULTS: In all, 1,880 clinical records were assessed in our study, with 358 in period A, 825 in period B, and 697 in period C. The use of antenatal corticosteroids increased over time (56.1% in period A, 56.7% in period B, and 74.0% in period C (P < .001). The need for surfactant decreased from 65.6% in period A to 40.7% in period B and 45.9% in period C. Increased utilization of NIRS was associated with decreased invasive mechanical ventilation within 24 h after birth. NIRS only during the hospital stay increased from 22.9% in period A to 36.8% and 45.1% in the latter 2 periods (P < .001). Oxygen therapy duration decreased from 24.3 d in period A to 14.4 d in period B and 17.2 d in period C (P < .001). The overall incidence of BPD was 32.4% in the first period, 23.9% in the second period, and 25.4% in the third period (P < .001). The moderate-to-severe forms of BPD decreased from 12.8% in period A to 7.9% in period B and 7.6% in period C (P = .009). Other neonatal complications, such as pneumothorax, pulmonary hemorrhage, persistent pulmonary hypertension of the newborn, surgical necrotizing enterocolitis, intraventricular hemorrhage grade III/IV, and periventricular leukomalacia, were unchanged among the 3 periods. CONCLUSIONS: From 2007-2020, respiratory management was characterized by a marked reduction in invasive mechanical ventilation and an increase in the use of NIRS. Changes in early respiratory support management resulted in improved respiratory outcomes with a decrease in the overall incidence of BPD. It is likely that our aim to reduce lung injury by improving our respiratory management has contributed to a favorable outcome.

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

Objective: 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). Methods: Sixty newborn Sprague-Dawley (SD) rats were randomly separated into the hyperoxia and air control groups (n = 30/in each group). The serum hepcidin level on 21 d was measured using the enzyme-linked immunosorbent assay (ELISA). The expression of HAMP and STAT3 protein in the liver was determined using reverse transcription-polymerase chain reaction (RT-PCR) and western blotting. Retinal neovasculature was evaluated by hematoxylin and eosin (HE) stain and fluorescein lectin. The retinal endothelial cells were treated with 250 µmol/L cobalt chloride for 72 h and added S3I-201. The STAT3 level was determined by western blotting. Results: The expression of STAT3 protein increased significantly after hyperoxia stimulation. The expression of HAMP mRNA in the hyperoxia group was significantly higher than that of the control group. The proliferation of retinal cells was inhibited, and the expression of STAT3 was increased. No significant difference was noted in vascular endothelial growth factor (VEGF) mRNA. The expression of STAT3 and VEGF mRNA was significantly reduced. Conclusion: The activation of the STAT3 signal pathway increased hepcidin expression, contributing to the pathogenesis of ROP. S3I-201 inhibited the expression of STAT3 and VEGF mRNA levels. This information provides potential novel therapeutic approach to the prevention and treatment of ROP.

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

Objectives: 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. Methods: The retinal EC growth rate in the presence of hypoxia-mimicking concentrations of cobalt chloride (CoCl2) was determined using the thiazolyl blue tetrazolium bromide (MTT) assay and proliferating cell nuclear antigen (PCNA) expression. In OIR rats, probenecid was administered by intraperitoneal injection (i.p.) from postnatal day (P) 1 to P7. The concentrations of vitreous humor vascular endothelial growth factor (VEGF), hypoxia-inducible factor (HIF)-1α, and placental growth factor (PlGF) were determined by using the ELISA kit at P21. The amount of newly formed vascular lumen was evaluated by histopathological examination. Retinopathy and neovascularization were assessed by scoring isolectin B4 fluorescein-stained retinal flat mounts. Western blots for liver tissue HIF-1α and hepcidin (HAMP) were performed. Results: In vitro, probenecid led to the recession of the hypoxia-induced EC growth rate. In vivo, compared to the OIR retina, the upregulation of VEGF, HIF-1α, and PlGF in phase II retinopathy of prematurity (ROP) was inhibited by probenecid administration. Moreover, probenecid ameliorated neovascularization and resulted in significantly reduced relative leakage fluorescence signal intensity in fluorescein-stained retinal flat mounts (p < 0.05). Probenecid alleviated the liver overactivation of HAMP and downregulation of HIF-1α in OIR rats. Conclusions: This is the first demonstration that implies that probenecid might be a protective compound against retinal angiogenesis in OIR. These changes are accompanied with decreased hyperoxia-mediated hepcidin overproduction. Although the relevance of the results to ROP needs further research, these findings may help establish potential pharmacological targets based on the CMap database.

Prevalence of small for gestational age infants in 21 cities in China, 2014-2019.

Infants who are small for gestational age (SGA) are at increased risk of neonatal and infant death, non-communicable diseases and growth retardation. However, the epidemiological characteristics of SGA remain unclear. We aim to explore the prevalence of SGA and to examine its socioeconomic associations by using data from 21 cities. 10,515,494 single live birth records between 2014 and 2019 from the Guangdong Women and Children Health Information System were included in the study. Descriptive statistical methods were used to analyze the prevalence trend of SGA and its distribution. We also analyze the associations between the prevalence of SGA and per-capita GDP. The prevalence of SGA in Guangdong Province from the years 2014-2019 was 13.17%, 12.96%, 11.96%, 12.72%, 11.45%, 11.30% respectively, and the overall prevalence was 12.28%. The prevalence of term SGA infants in Guangdong Province was 12.50%, which was much higher than that of preterm SGA (7.71%). There was a significant negative correlation between the SGA prevalence and per-capita GDP in 21 cities of Guangdong Province. The level of economic development may affect the prevalence of SGA. The prevalence of SGA in full term infants is significantly higher than in premature infants, suggesting that most SGA infants may be born at a later gestational age.

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. This work assessed the effects of erythropoietin (EPO) in a murine model of inflammation-associated preterm delivery, which mimics central features of preterm infections in humans. METHOD OF STUDY: BALB/c mice were injected i.p. with 20 000 IU/kg EPO or normal saline twice on gestational day (GD) 15, with a 3 hours time interval between injections. An hour after the first EPO or normal saline injection, all mice received two injections of 50 µg/kg LPS, also given 3 hours apart. RESULTS: EPO significantly prevented preterm labor and increased offspring survival in an LPS induced preterm delivery model. EPO prevented LPS-induced leukocyte infiltration into the placenta. Moreover, EPO inhibited the expression of pro-inflammatory cytokines, interleukin-1ß (IL-1ß), interleukin-6 (IL-6), and tumour necrosis factor-α (TNF-α) in maternal serum and amniotic fluid. EPO also prevented LPS-induced increase in placental prostaglandin (PG)E2 and uterine inducible nitric oxide synthase (iNOS) production, while decreasing nuclear factor kappa-B (NF-κß) activity in the myometrium. EPO also increased the gene expression of placental programmed cell death ligand 1 (PD-L1) in LPS-treated mice. CONCLUSIONS: Our results suggest that EPO could be a potential novel therapeutic strategy to tackle infection-related preterm labor.

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. The physical examination revealed nasal alae aplasia, scalp defect, and maldescent of left testicle. Transabdominal ultrasound and computed tomography scan of his abdomen demonstrated complete fatty replacement of the pancreas. The clinical, laboratory, and imaging findings strongly suggest the diagnosis of hereditary pancreatitis. Whole exome sequencing revealed two rare compound heterozygous variants, c.2511T > G (p.H837Q) and c.1188T > G (p.Y396X), in the UBR1 gene of this boy, so, the diagnosis of JBS was established. This is the first report of Chinese patient with JBS, and our study indicates that transabdominal ultrasound and computed tomography are two useful and noninvasive imaging methods for the diagnosis and evaluation of JBS, and identification of these two novel variants expands the database of UBR1 gene variants. Furthermore, with the availability of the identification technology for these variants, prenatal diagnosis could be offered for future pregnancies.

[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. RESULTS: There were significant differences in the frequencies of CC, CT, and TT genotypes of TMPRSS6 rs855791 between the CMPA and control groups (P=0.008), and the CMPA group had a significantly higher frequency of TT genotype. The multivariate logistic regression analysis showed that the children with TT genotype of rs855791 had an increased risk of CMPA (OR=3.473, P=0.011). However, there was no significant difference in the genotype distribution of FokI rs2228570 in the VDR gene between the two groups (P=0.686). CONCLUSIONS: TMPRSS6 rs855791 polymorphism is associated with CMPA in children, and TT genotype may be the susceptible genotype of CMPA. FokI rs2228570 polymorphism is not associated with 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. Significant outcomes were analyzed thereafter by SPSS 19.0. RESULTS: The screening rate of ROP in medical institutions from eastern, central and western China were 84.6%, 35.0% and 56.7%, respectively. The screening rate of tertiary and secondary medical institutions were 84.6% and 25.7% in the eastern, 35.0% and 4.9% in the central, 56.7% and 5.9% in the western region. Screening was carried out better in the tertiary than that in the secondary and primary institutions. Treatment for ROP was available in 15.7% of all the tertiary hospitals surveyed. Lack of professionals, equipments and technologies were considered to be major restrain factors for screening. CONCLUSIONS: The ROP screening and treatment status have demonstrated significant regional diversity due to uneven distribution of medical resources in China. Developed areas had established intraregional cooperation models, whereas less-developed areas should consider set up a large-scale, three-level ROP prevention network. It is of paramount importance that education and training towards ophthalmologists should be vigorously strengthened. It is strongly recommended that implement ROP telemedicine and integrated ROP prevention and management platforms through the Internet should be established.

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. DESIGN AND MAIN OUTCOME MEASURES: Anaesthesia modalities consisted of topical eye drops anaesthesia, general anaesthesia and intravenous fentanyl sedation with mechanical ventilation. Laser treatment efficacy and detailed operative information were retrospectively and consecutively analysed. Cardiorespiratory stability was assessed and compared. The Neonatal Pain Agitation and Sedation Scale (N-PASS) was used to evaluate tolerability in infants that underwent intravenous fentanyl sedation. RESULTS: 97 cases of prematurity were included in this study. In 94/97 (96.9%) cases, vascular proliferation regressed. In the topical anaesthesia groups, the ophthalmologist needed 12-16 min more to complete the treatment. During the 3 postoperative days, topical anaesthesia demonstrated the greatest instability; 4/31 (12.90%) infants in this group suffered from life threatening events requiring resuscitation. The only instability observed in general anaesthesia and fentanyl sedation was attributed to difficulty in extubating within 24 hours after surgery. During laser therapy, the N-PASS score increased to 1.8 in the fentanyl sedation group. CONCLUSIONS: Topical anaesthesia was associated with more cardiorespiratory instability during ROP laser treatment. While general anaesthesia and fentanyl sedation had similar postoperative cardiorespiratory results, the latter demonstrated acceptable pain stress control. However, the difficulty of weaning off mechanical ventilation in some cases after surgery needs to be addressed in future studies.

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. The cause of T-CS is unknown, although there have been reports of patients with a clinical diagnosis of T-CS and a chromosome anomaly. We describe another such patient who was found to have an interstitial deletion of 3q (3q12.1-q21.3). © 2016 Wiley Periodicals, Inc.

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. Adverse effects pertain to cardiovascular system, respiratory system, gastric system, urinary system and nervous system were retrospect 0-72h after ROP screening at a 24-hour interval. RESULTS: Totally 1254 prematurity babies receiving ROP screening during Jan. 1(st) 2013 to Dec. 31(th) 2013 were enrolled in our survey. Compared to control vital sign data taken before the examination, there was a fluctuation in the diastolic BP with the increased 3.03 mm Hg (P=0.04) after 3 doses of mydriatic drops. Immediately after the examination, there was a further 12.64 mm Hg (P<0.01) increase in systolic BP and a 7.24 mm Hg (P<0.01) in diastolic BP. The mean pulse rate during examination was 22.4 bpm (P<0.01) higher than the 133.3±9.0 bpm control level. The oxygen saturation shared an average drop of 5% (P<0.01) during screening. In prematurity with postconceptional age less than 31wk, the incidence of apnea (23.5%), necrotizing enterocolitis (NEC) (8.7%), gastric residual (25.4%) and upper digestive tract hemorrhage (6.4%) also demonstrated a significant rise (P<0.01). CONCLUSION: In our study sample, ROP screening was associated with NEC, gastric residual and upper digestive tract hemorrhage. These gastrointestinal side effects, along with breath activity pattern change and vital signs indicators fluctuation, may be results of additional stress responses.

[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). A total of 24 full-term infants were enrolled as control group. Head MRI and DTI were performed at a gestational age or corrected gestational age of 37-40 weeks. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were measured for the same regions of interest in the three groups. RESULTS: The preterm group with brain injury showed a significantly lower FA value of the posterior limb of the internal capsule than the preterm group without brain injury and full-term control group (P<0.05). The preterm groups with and without brain injury showed significantly lower FA values of frontal white matter and lenticular nucleus than the full-term control group (P<0.05). The FA value of occipital white matter showed no significant differences among the three groups (P>0.05). Compared with the full-term control group, the preterm groups with and without brain injury showed significantly higher ADC values of the posterior limb of the internal capsule, lenticular nucleus, occipital white matter, and frontal white matter (P<0.05). CONCLUSIONS: After brain injury, preterm infants tend to develop disorder or delay of white matter myelination in the posterior limb of the internal capsule. At a corrected full-term gestational age, the preterm infants with and without brain injury have a lower grade of maturity in periventricular white matter and grey matter than full-term 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. Cultivated cells were treated with CoCl2 to induce hypoxia. The dual-color microarray approach was adopted to compare gene expression profiling between treated RMECs and the paired untreated control. The one-class algorithm in significance analysis of microarray (SAM) software was used to screen the differentially expressed genes (DEGs) and quantitative RT-PCR (qRT-PCR) was conducted to validate the results. Gene Ontology was employed for functional enrichment analysis. There were 326 DEGs between the hypoxia-induced group and untreated group. Of these genes, 198 were upregulated in hypoxic RMECs, while the other 128 hits were downregulated. In particular, genes in the iron ion homeostasis pathway were highly enriched under hypoxic conditions. Our study indicates that dysregulation of genes involved in iron homeostasis mediating oxidative damage may be responsible for the mechanisms underlying ROP. The "oxygen plus iron" hypothesis may improve our understanding of ROP pathogenesis.

[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. The changes of peak expiratory flow rate (PEFR) before and after treatment and the recurrence times during the one-year follow-up were observed. Peripheral serum contents of immunoreactive fibronectin-gamma (IFN-gamma) and interleukin-4 (IL-4) were detected before and after treatment using ELISA. RESULTS: The total effective rate was higher in Group B (73.3%) than in Group A (66.7%), but with no statistical difference between the two groups (P>0.05). It was highest in Group C (96.7%), showing significant difference from the other two groups (P<0.05). The levels of PEFR and IFN-gamma significantly increased and IL-4 obviously decreased in the three groups after treatment (P<0.05). No statistical difference of PEFR, IFN-gamma, or IL-4 existed in the three groups before treatment (P>0.05). Statistical difference of PEFR, IFN-gamma, or IL-4 existed between Group C and Group B after treatment (P<0.05). CONCLUSIONS: Astragalus played a role in preventing the recurrence of asthma. The combination of astragalus and hormones showed better effects.

[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. siRNA directed against human VEGF was designed and chemically synthesized. There were 3 groups in our experiment: VEGF siRNA group, hypoxia control group, and negative siRNA control group. The fetal retinal micrangium vascular endothelial cells were transfected by using liposome. The expression levels of VEGF mRNA and protein were evaluated by RT-PCR and Western blotting 24, 48, 72 h after transfection, cell proliferation was evaluated by MTT method. RESULT: The expression levels of VEGF mRNA decreased by 21.05%, 79.67%, and 90.48% 24 h, 48 h, and 72 h after transfection as compared to those in hypoxia control group, the expression level of VEGF protein had decreased by 14.58%, 66.97%, and 81.61% as compared to those in hypoxia control group. The siRNA could decrease cell proliferation under hypoxia too, the multiplication rate after 12, 24, 48, and 72 h decreased by 15.0%, 42.9%, 78.3% and 65.9%. CONCLUSION: VEGF siRNA could down-regulate the expression of VEGF in immature fetal retinal microvascular endothelial cells and suppressed cell proliferation. Application of siRNA to inhibit expression of VEGF may be a hopeful way to prevent and cure ROP.