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OBJECTIVE@#To explore the clinical and genetic characteristics of three children with KBG syndrome.@*METHODS@#Clinical data of the three children from two families who have presented at the First Affiliated Hospital of Zhengzhou University between October 2019 and September 2020 and their family members were collected. Trio-whole exome sequencing (trio-WES) and Sanger sequencing were carried out.@*RESULTS@#All children had feeding difficulties, congenital heart defects and facial dysmorphism. The sib- pair from family 1 was found to harbor a novel de novo heterozygous c.6270delT (p.Q2091Rfs*84) variant of the ANKRD11 gene, whilst the child from family 2 was found to harbor a novel heterozygous c.6858delC (p.D2286Efs*51) variant of the ANKRD11 gene, which was inherited from his mother who had a mild clinical phenotype.@*CONCLUSION@#The heterozygous frameshift variants of the ANKRD11 gene probably underlay the disease in the three children. Above findings have enriched the spectrum of the ANKRD11 gene variants.
Subject(s)
Female , Child , Humans , Abnormalities, Multiple/genetics , Intellectual Disability/genetics , Bone Diseases, Developmental/genetics , Tooth Abnormalities/genetics , Facies , Repressor Proteins/genetics , Mothers , MutationABSTRACT
Objective:Lung ultrasound (LUS) has been used in the diagnosis of neonatal respiratory distress syndrome(RDS) successfully, but there have been no multicenter prospective studies to verify its reliability or determine how to grade RDS with LUS findings.This study aimed to discuss the necessity and feasibility of using LUS findings to determine RDS grades through a multicenter prospective study.Methods:Every researcher participated in the National Neonatal Lung Ultrasound Training Course and receiving 3-6 months of lung ultrasound system training at the National Neonatal Lung Ultrasound Training Center.Patients between June 2018 and May 2020 who met the RDS ultrasound diagnostic criteria and had full available clinical data were included in this study.The LUS examination was completed immediately after the patients were admitted to the hospital.Some of them also underwent chest X-ray examination.Arterial blood gas analysis was completed immediately before or after the LUS ultrasound examination.RDS grading was performed according to the LUS findings and whether the patient had serious complications.Results:A total of 275 qualifying cases were included in this study, which included 220 premature infants and 55 full-term infants, and the primary RDS occurred in 117 cases (42.5%), and secondary RDS occurred in 158 cases (57.5%). LUS manifestations of RDS patients can be divided into three categories: (1)A ground-glass opacity sign: which could be found among 50 infants when they were admitted to the hospital (that was, at their first LUS examination). Twenty-eight of these infants were considered to have wet lungs and were not sent for special management on admission, but LUS showed typical snowflake-like lung consolidation within 0.5 to 4 hours.Twenty-two of them were given mechanical ventilation with exogenous pulmonary surfactant; Eighteen cases were controlled within 6-12 hours, but the lung lesions became more severe in the other 4 infants (due to severe intrauterine infection). (2)Snowflake-like lung consolidations: the first LUS on admission showed typical snowflake-like lung consolidation involving areas ranging from 1-2 intercostal spaces to 12 lung divisions in 204 cases.Thirty-eight infants among them the lung consolidation only had involvement of 1-2 intercostal spaces at the time of admission; Fifteen of them received invasive respiratory support and recovered within 4-12 hours.Twelve patients received noninvasive respiratory support; Seven of them recovered, while five cases developed severe lung illness.The remaining 11 patients who were not given any form of ventilator support developed severe conditions within 1-4 hours.Thirty of them showed snowflake signs involving 12 lung regions at admission.The remaining 136 patients had lung consolidation degree between the two degree above condition.(3)Snowflake-like sign with complications: Twenty-one patients had severe complications such as pneumothorax, pulmonary hemorrhage or/and persistent pulmonary hypertension of the newborn or large area atelectasis, etc, although snowflake lung consolidation did not involve all lung regions.Conclusion:(1) LUS is reliable and accurate for diagnosing RDS.RDS has the same characteristics on ultrasound for both preterm and full-term infants, both primary and secondary RDS.(2) To facilitate the management of RDS, it is necessary to classify RDS according to the ultrasound findings and the presence of severe complications.(3) Based on the results of this study, it is recommended that RDS can be divided into mild, moderate and severe degrees.The exact standards for grading are as follows: Mild RDS: the early stage of RDS, in which lung consolidation shows as a ground-glass opacity sign on ultrasound; Moderate RDS: lung consolidation shows a snowflake sign on ultrasound, not all of the lung fields are involved; Severe RDS meets one or more of the following criteria: lung consolidation shows as a snowflake sign on ultrasound and all lung regions are involved, or regardless of its degree and extent, lung consolidation has caused serious complications, such as pulmonary hemorrhage, pneumothorax, persistent pulmonary hypertension of the newborn, or/and a large area of pulmonary atelectasis.
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OBJECTIVE@#To explore the genetic basis for an infant with neonatal diabetes (NDM) and multiple malformations.@*METHODS@#Genetic variants were detected by next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing.@*RESULTS@#A de novo heterozygous variant, c.1454_1455del(p.K485Rfs), was detected in exon 5 of the GATA6 gene. The variant was undetected in his parents and unreported previously. Bioinformatic analysis predicted the variant to be pathogenic.@*CONCLUSION@#The heterozygous variant of c.1454_1455del(p.K485Rfs) of the GATA6 gene probably underlies the disease in this child. Genetic testing can facilitate diagnosis and genetic counseling for NDM.
Subject(s)
Adult , Female , Humans , Infant, Newborn , Male , Abnormalities, Multiple , Diabetes Mellitus/genetics , Genetic Testing , Heterozygote , High-Throughput Nucleotide Sequencing , Sequence Deletion/geneticsABSTRACT
BACKGROUND:Studies have found that adipose-derived stem cells (ADSCs)/collagen complexes can promote the ADSCs differentiation and maturation into mature adipocytes and promote angiogenesis.OBJECTIVE:To explore the biological properties of the ADSCs/collagen sponge composite material and to detect its effect on angiogenesis.METHODS:(1) ADSCs were cultured on collagen sponge (experimental group) or cultured alone (control group).After 24 hours of culture,cell adhesive rate of ADSCs was determined with flow cytometry.After 2,4,6 days of culture,cell proliferation and level of vascular endothelial growth factor (VEGF) in the culture medium were detected.(2) Chick embryo chorioallantoic membranes were exposed and incubated for 7 days and then divided into four groups:0.2 mL of sterile PBS was added in the blank group,0.2 mL of 2× 108/L passage 3 ADSCs suspension was added in the ADSCs group,collagen sponge was added in the collagen sponge group,and collagen sponge with 0.2 mL of 2× 108/L passage 3 ADSCs suspension was added in the composite group.After 7 days of incubation,the microvessel count around the chorioallantoic membrane was measured.RESULTS AND CONCLUSION:(1) The cell adhesive rate of ADSCs to collagen sponge reached to (93.04±0.67)％.(2)The absorbance value (at 6 days of culture) and level of VEGF (at 4 and 6 days of culture) in the experimental group were significantly higher than those in the control group (P ＜ 0.01 or P ＜ 0.05).(3) Compared with the blank group,the number of microvessels was significantly higher in the ADSCs,collagen sponge and composite groups (P ＜ 0.05).Moreover,higher amount of microvessels were found in the composite group than the ADSCs and collagen sponge groups (P ＜ 0.05).To conclude,ADSCs can adhere well to the collagen sponge with good biocompatibility and their combined use can improve angiogenesis further by enhancing cell proliferation and VEGF secretion of ADSCs.
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BACKGROUND:It has been shown thatChuanglingye has good anti-inflammatory effects, inhibits platelet aggregation and thrombus and improve wound healing. OBJECTIVE:To investigate the effects ofChuanglingye-loaded colagen on regulating inflammation and healing process of chronic wounds. METHODS: Forty rats were selected to make chronic wound models and randomly divided into four groups at 3 days after modeling: control group, colagen group,Chuanglingye group,Chuanglingye-loading colagen group, 10 rats in each group, respectively treated with 0.2 mL normal saline, 0.2 mL Chuanglingye, colagen and Chuanglingye-loaded colagen. The size of wounds was measured when modeling and at 3, 7 and 15 days after modeling. Amount of white blood cels, interleukin-6 level and tumor necrosis factor-α level in wound exudates were detected. The levels of hydroxyproline and matrix mentaloproteases (MMPs), including MMP-1, MMP-2, MMP-9, in the granulation tissue, were also detected. RESULTS AND CONCLUSION:At 3, 7, 15 days after modeling, the amount of white blood cels and levels of interleukin-6, tumor necrosis factor-α, MMP-1, MMP-2, MMP-9 were significantly lower in the Chuanglingye-loaded colagen group andChuanglingye group compared to the control group and colagen group (P Chuanglingye group. The level of hydroxyproline in the granulation tissue was significantly higher in the Chuanglingye-loaded colagen group than the other three groups at 3, 7, 15 days after modeling (P < 0.05), and the size of wound in theChuanglingye-loaded colagen group was significantly lower than that in the other three groups at 15 days after modeling (P < 0.01). In addition, no significant difference was found among the four groups at 15 days after modeling. These findings indicate thatChuanglingye-loaded colagen can significantly depress proliferation and infiltration of inflammatory cels on the wound surface, decrease levels of inflammatory factors and MMPs in wound exudates, and thus promote the healing of chronic wounds.
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This article was aimed to explore the effect ofSan-Huang (SH) decoction on improving chemosensitivity of MCF-7 cells to epirubicin and inhibition of Aurora kinase A, in order to discuss its underlying mechanism. The inhibition of MCF-7 cells proliferation on breast cancer by SH decoction was determined by CCK-8 assay. RT-PCR and western blot were used to detect the Aurora A, p53 mRNA and protein expression level of MCF-7 cells by SH decoction. The siRNA silenced Aurora A of MCF-7 cells. CCK-8 assay was used to detect the inhibition of MCF-7 cells proliferation. CCK-8 assay and AnnexinV-FITC/PI staining were used to detect the inhibition rate and apoptosis rate of MCF-7 cells treated by the combination of SH decoction and epirubicin. Western blot analysis was used to detect the expression of apoptosis-related proteins. The results showed that SH decoction inhibited the proliferation of MCF-7 cells in a dose-dependent manner (P 0.05). SH decoction can regulate the Aurora A, p53 protein and mRNA expression of MCF-7 cells. siRNA silenced Aurora A, which downregulated the inhibition rate of MCF-7 cells by SH decoction for 50.0% (from 49.2% to 24.8%). The combination of SH decoction and epirubicin enhanced the effect of epirubicin on inhibiting the proliferation rate and apoptosis rate of MCF-7 cell, regulated the expression levels of apoptosis-related protein such as c-PARP, c-Caspase 3, Bcl-2, Bax, as well as the protein level of Aurora A. It was concluded that SH decoction can increase the chemosensitivity of MCF-7 cells to epirubicin, which may be related to the inhibition of Aurora Kinase A by SH decoction.
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Objective To evaluate the effects of Chuanglingye decoction on angiogenesis and wound healing. Methods With a series of dosages of Chuanglingye decoction, their optimal effects of angiogenesis were searched for through the chicken embryo allantois membrane model(CAM). The vascular endothelial cell proliferation experiment (MTT) and the migration assay were used for the detection of effects. The gauze loading with Chuanglingye decoction of 0.2 ml as the experimental group and with saline of 0.2ml as the control group were applied on the total skin mechanical round wound of 1.5cm diameter and changed every other day. The sizes of area were detected on the day of 0,3,7,14 and 28 as well as the scores of inflammatory response, contains of TNF-αand Il-6 were detected on the day of 3 and 7. Results The CAM experiments showed that the angiogenic effects of 0.2 ml and 0.3 ml dosage of the Chuanglingye group were significantly lower than those of the control group(P<0.05). The 0.2 ml dosage of Chuanglingye decoction was chosen for the further experiment. The HUVEC proliferation rate of the experimental group decreased 21%, as compared with the results of control group. The cell migration movement of 12 hours, 24 hours in the experimental group were significantly lower than those in the control group. For theanimal experiments, the area sizes of the wound were similar in the experimental and control group without any significant differences. The scores of inflammatory response and contains of TNF-α(768±107)ng/L,(380±47)ng/L and Il-6(664±133)ng/L,(363±43)ng/L in the experimental group were significant decreased than those of the control group on the day of 3(958± 140)ng/L,(2215±314)ng/Land 7(512±62)ng/L,(1562±174)ng/L. Conclusion It showed that Chuanglingye decoction had negative effects on vascular endothelial cell migration and proliferation and thus inhibiting angiogenesis. These effects did not infer the process of the wound healing due to its ameliorating the inflammatory response which may be a help to wound healing.