ABSTRACT
Objective:To evaluate the detection of copy number variation (CNV) by chromosome microarray analysis (CMA) in fetuses with congenital anomalies of the kidney and urinary tract (CAKUT).Methods:A total of 1 929 fetuses who were ultrasonically found with CAKUT and underwent CMA from Guangdong Women and Children's Hospital and Health Institute were enrolled in this retrospective study from January 2016 to July 2020. These fetuses were divided into isolated CAKUT group ( n=1 567), CAKUT with soft markers group ( n=269), and CAKUT with other structural anomalies group ( n=93) for comparing the detection rate of pathogenic CNV using Chi-square test or Fisher exact test. Results:(1)The detection rate of all and pathogenic CNVs were 6.5%(125/1 929) and 4.8%(93/1 929), respectively. The total detection rate of CNV, clinically significant CNV and large chromosome structural variations in the CAKUT with other structural anomalies group were higher than those of the CAKUT with soft markers group and isolated CAKUT groups[31.2%(29/93), 11.5%(31/269) vs 4.2%(65/1 567), χ2=119.002; 18.3%(17/93), 9.0%(24/269) vs 3.6%(56/1 567), χ2=49.677; 9.7%(9/93), 2.2%(6/269) vs 0.3%(4/1 567), χ2=42.727; all P<0.001]. CAKUT with other structural anomalies group had a higher detection rate of pathogenic CNV (18.3%, 17/93) than the CAKUT with soft markers group (8.6%, 23/269) and the isolated CAKUT group [3.4%(53/1 567)] ( χ2=51.932, P<0.001). (2) The detection rate of pathogenic CNV was the highest in fetuses with enhanced renal echo (14.7%, 23/156), followed by renal enlargement (8.2%, 5/61), renal dysplasia (5.0%,13/261), polycystic renal dysplasia (5.0%, 13/261), and hydronephrosis (4.8%, 20/413). Fetuses with polycystic renal dysplasia, renal agenesis, fused kidney and hydronephrosis in the CAKUT with other structural anomalies group had a higher detection rate of pathogenic CNV than those in the isolated CAKUT group [3/9 vs 3.5%(8/230), 2/17 vs 1.3%(3/237), 1/8 vs 0.0%(0/59) and 3/18 vs 3.4%(12/344), all P<0.017]. The CAKUT with other structural anomalies group had a higher detection rate of pathogenic CNV than CAKUT with soft markers group in fetuses with enhanced renal echo [4/8 vs 12.8%(5/39), P<0.017]. (3) The top three microdeletion/microduplication syndrome were 17q12 microdeletion syndrome (36.6%, 34/93), 22q11.2 microdeletion syndrome (23.7%, 22/93), and 16p11.2 microdeletion syndrome (7.5%, 7/93) among those with pathogenic CNV. Conclusions:The risk of CNV in fetuses with isolated CAKUT, CAKUT with soft markers, and CAKUT with additional structural anomalies increased progressively. CMA might be a better choice in fetuses with hydronephrosis, enhanced renal echo, renal enlargement, renal hypoplasia, and multicystic renal dysplasia to improve the detection rate of CNV.
ABSTRACT
Objective:To investigate the prenatal genetic testing for suspected Beckwith-Wiedemann syndrome (BWS) to improve its prenatal diagnosis rate.Methods:This study reported a pregnant woman, who had a pregnant history of termination due to the same reason at 18 weeks, with fetal acromphalus and unusually thickened placenta indicated by ultrasound examination at 13 weeks of gestation. After chorionic villus sampling, single nucleotide polymorphism (SNP) array was used to analyze copy number variations in the whole genome, and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was also performed to detect the methylation and copy number variations in H19 and KCNQ1 genes on chromosome 11p15. Peripheral blood samples were collected from the couple for chromosome G-banding karyotype analysis and SNP array. Results:The SNP array indicated a 176 kb heterozygous deletion in the 11p15.5 region. MS-MLPA revealed a loss of methylation at imprinting control region 2 and a 50% reduction of copy numbers of KCNQ1 (L02903) gene. No abnormality was found in the parents in the SNP array and G-banding karyotype analysis. The fetus was prenatally diagnosed with BWS. Conclusions:When intrauterine abnormalities, such as acromphalus and abnormal thickening of the placenta, are found by ultrasound during early pregnancy, prenatal genetic tests related to BWS, including MS-MLPA and SNP array, are suggested to avoid a missed diagnosis of BWS.
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus featuring increased nuchal thickness.@*METHODS@#Routine G-banding karyotyping and single nucleotide polymrophism array were carried out to detect genomic copy number variations (CNVs) in the fetus.@*RESULTS@#The fetus was found to harbor a heterozygous 3.8 Mb deletion in the 2q22.2-q22.3 region encompassing the ZEB2 gene, which is closely associated with Mowat-Wilson syndrome (MWS).@*CONCLUSION@#Haploinsufficiency of the ZEB2 gene may predispose to MWS. Lack of knowledge regarding to the ultrasonographic features of MWS may lead to misdiagnosis of the syndrome.
Subject(s)
Female , Humans , Pregnancy , DNA Copy Number Variations , Facies , Fetus , Hirschsprung Disease , Diagnosis , Genetics , Intellectual Disability , Diagnosis , Genetics , Microcephaly , Diagnosis , Genetics , Prenatal Diagnosis , Sequence Deletion , Zinc Finger E-box Binding Homeobox 2 , GeneticsABSTRACT
Objective To evaluate the efficacy of 0.3％ sodium hyaluronate ophthalmic solution in mild-to-moderate dry eye patients.Metbods A prospective,multicenter,and self-controlled clinical trial was performed on 200 patients who were diagnosed as mild-to-moderate dry eye from January 2015 to June 2017 in Eye Institute of Xiamen University,Eye & ENT Hospital of Fudan University,Zhongshan Ophthalmic Center,Xiangya Hospital Central South University,Eye Hospital of Wenzhou Medical University,and Beijing Tongren Hospital,Capital Medical University.The study protocol was approved by the Ethics Committees of Eye Institute of Xiamen University,written informed consent was obtained from each patient prior to any medical examination.All patients were treated with 0.3％ sodium hyaluronate ophthalmic solution 6 times per day (one drop each time) for 28 days.Corneal fluorescein sodium staining,tear film break-up time (BUT),Schirmer Ⅰ test (S Ⅰ t),degree of conjunctival hyperemia,eyelid margin,meibomian gland secretion,secretory capacity of meibomian gland and subjective symptoms were assessed at baseline,on the 14th day and 28th day after treatment.Bulbar impression cytology was evaluated at baseline and on the 28th day after treatment.Irritation of 0.3％ sodium hyaluronate ophthalmic solution was estimated on the 14th day and 28th day after treatment.Results The total score of subjective symptoms,BUT,S Ⅰ t,degree of conjunctival hyperemia were significantly different among different treatment time points (F =108.969,27.598,16.838,36.750;all at P＜0.01).Compared with before treatment,the total score of subjective symptoms was significantly decreased,the degree of conjunctival hyperemia and the total corneal fluorescein sodium staining point number were significant decreased on the 14th day and 28th day after treatment.The total score of subjective symptoms,degree of conjunctival hyperemia and total corneal fluorescein sodium staining point number on the 28th day after treatment were significant lower than those on the 14th day after treatment.Compared with before treatment,the BUT was significantly longer and the S Ⅰ t scores were significantly increased on the 14th day and 28th day after treatment.The BUT on the 28th day after treatment was significantly longer than that on the 14th day after treatment;no significant difference in S Ⅰ t was observed between the 28th day and the 14th day after treatment.The scores of palpebral margin change,meibomian gland secretory ability and secretion characteristics were not significantly different among different treatment time points(H=0.255,2.356,0.294;all at P＞0.05).The impression cytology grade on the 28th day after treatment was 1.08±0.74,which was significantly lower than 1.53±0.76 before treatment (t =5.979,P＜0.01).The number of goblet cells on the 28th day after treatment was significantly higher than that before treatment (U =1 806.500,P＜ 0.01).On the 14th day after treatment,70％ of the patients indicated that the drug was non-irritating,and no patient had intolerable irritation affecting daily lives.All patients had good tolerance to this drug.Conclusions The use of 0.3％ sodium hyaluronate eye drops can improve the symptoms and signs of mild to moderate dry eye,which can be widely used for mild-to-moderate dry eye patients in clinic.
ABSTRACT
Objective@#To explore the genetic basis for a fetus featuring increased nuchal thickness.@*Methods@#Routine G-banding karyotyping and single nucleotide polymrophism array were carried out to detect genomic copy number variations (CNVs) in the fetus.@*Results@#The fetus was found to harbor a heterozygous 3.8 Mb deletion in the 2q22.2-q22.3 region encompassing the ZEB2 gene, which is closely associated with Mowat-Wilson syndrome (MWS).@*Conclusion@#Haploinsufficiency of the ZEB2 gene may predispose to MWS. Lack of knowledge regarding to the ultrasonographic features of MWS may lead to misdiagnosis of the syndrome.
ABSTRACT
Objective To evaluate the efficacy of 0. 3％ sodium hyaluronate ophthalmic solution in mild.to. moderate dry eye patients. Methods A prospective,multicenter,and self.controlled clinical trial was performed on 200 patients who were diagnosed as mild.to.moderate dry eye from January 2015 to June 2017 in Eye Institute of Xiamen University,Eye &ENT Hospital of Fudan University,Zhongshan Ophthalmic Center,Xiangya Hospital Central South University, Eye Hospital of Wenzhou Medical University, and Beijing Tongren Hospital, Capital Medical University. The study protocol was approved by the Ethics Committees of Eye Institute of Xiamen University,written informed consent was obtained from each patient prior to any medical examination. All patients were treated with 0. 3％ sodium hyaluronate ophthalmic solution 6 times per day ( one drop each time) for 28 days. Corneal fluorescein sodium staining,tear film break.up time (BUT),SchirmerⅠtest (SⅠt),degree of conjunctival hyperemia,eyelid margin,meibomian gland secretion,secretory capacity of meibomian gland and subjective symptoms were assessed at baseline,on the 14th day and 28th day after treatment. Bulbar impression cytology was evaluated at baseline and on the 28th day after treatment. Irritation of 0. 3％ sodium hyaluronate ophthalmic solution was estimated on the 14th day and 28th day after treatment. Results The total score of subjective symptoms,BUT,SⅠt,degree of conjunctival hyperemia were significantly different among different treatment time points( F=108. 969,27. 598,16. 838,36. 750;all at P<0. 01). Compared with before treatment,the total score of subjective symptoms was significantly decreased, the degree of conjunctival hyperemia and the total corneal fluorescein sodium staining point number were significant decreased on the 14th day and 28th day after treatment. The total score of subjective symptoms,degree of conjunctival hyperemia and total corneal fluorescein sodium staining point number on the 28th day after treatment were significant lower than those on the 14th day after treatment. Compared with before treatment,the BUT was significantly longer and the SⅠt scores were significantly increased on the 14th day and 28th day after treatment. The BUT on the 28th day after treatment was significantly longer than that on the 14th day after treatment;no significant difference in SⅠt was observed between the 28th day and the 14th day after treatment. The scores of palpebral margin change,meibomian gland secretory ability and secretion characteristics were not significantly different among different treatment time points(H=0. 255,2. 356,0. 294;all at P>0. 05). The impression cytology grade on the 28th day after treatment was 1. 08±0. 74,which was significantly lower than 1. 53±0. 76 before treatment (t=5. 979, P<0. 01). The number of goblet cells on the 28th day after treatment was significantly higher than that before treatment(U=1806. 500,P<0. 01). On the 14th day after treatment,70％ of the patients indicated that the drug was non.irritating,and no patient had intolerable irritation affecting daily lives. All patients had good tolerance to this drug. Conclusions The use of 0. 3％ sodium hyaluronate eye drops can improve the symptoms and signs of mild to moderate dry eye,which can be widely used for mild.to.moderate dry eye patients in clinic.
ABSTRACT
Objective: To prepare scutellarin nanosuspension ( SCU-NS) and study the main influencing factors in the prepara-tion. Methods:The technology parameters were determined, and then the influencing factors of SCU-NS were studied. The optimal formula was confirmed by orthogonal design with zeta potential as the evaluation index. Results: The optimal formula process was as follows:drug amount was 0. 5 g, Pluronic? F68 amount was 0. 1 g, phospholipid amount was 0. 2 g, SDS amount was 0. 05 g and HPMC E5 amount was 0. 05 g. The average particle size and the zeta potential of SCU-NS was (122 ± 4) nm and ( -25. 5 ± 0. 6) mV, respectively. The result of transmission electron microscope showed that SCU-NS was spherical and uniform, and the dissolution of SCU-NS in 30 min was more than 90%. Conclusion:Nanosuspension can significantly enhance the dissolution of SCU.
ABSTRACT
Objective To study the effect of psychological nursing on heart rate variability (HRV)in patients with acute myocardium infarction. Methods 80 patients with AMI were randomly divided into group A(routine nursing group)and group B (psychological nursing group) with 40 patients in each group,HRV was evaluated in both groups.The time domain and frequency domain of HRV of 24 h sinus rhythm in two groups of patients were analyzed. Results In group B,24 h average standard deviation of RR interval (SDNN),5 min segments of continuous average standard deviation of RR intervals (SDANN),the difference between adjacent cardiac RR interval of the root mean square (rMSSD),the percentage of adjacent canrdiac RR interval greater than 50 ms (PNN50),low frequency (LF),high frequency (HF) and other HRV parameters were significantly higher than group A. Conclusions Psychological nursing can significantly increase HRV and improve the electric stability of the ischemic myocardium.Psychological nursing can stabilize emotion of patients,decrease sympathetic tone,and may have a role in the prevention of sudden death.
ABSTRACT
The feasibility and the clinical value of the enzyme-multiplied immunoassay technique (EMIT) monitoring of blood concentrations of cyclosporine A (CsA) in patients treated with CsA were investigated after kidney transplantation.The validation method was performed to the EMIT determination of CsA blood concentration,the CsA whole blood trough concentrations (Co) of patients in different time periods after renal transplantation were monitored,and combined with the clinical complications,the statistical results were analyzed and compared.EMIT was precise,accurate and stable,also with a high quality control.The mean postoperative blood concentration of CsA was as follows:＜1 month,(281.4± 57.9)ng/mL; 2 - 3 months,(264.5 ± 41.2)ng/mL; 4 - 5 months,(236.4 ± 38.9)ng/mL; 6 - 12 months,(206.5 ± 32.6)ng/mL; ＞12 months,(185.6 ± 28.1)ng/mL.The toxic reaction rate of CsA blood concentration within the recommended therapeutic concentration was 14.1％,significantly lower than that of the none-recommended dose group (37.2％) (P＜0.05); the transplantation rejection rate was 4.4％,significantly lower than that of the nonerecommended dose group (22.5％) (P＜0.05).Using EMIT to monitor the blood concentration of CsA as the routine laboratory method is feasible,and is able to reduce the CsA toxicity and rejection significantly,leading to achieving the desired therapeutic effect.
ABSTRACT
The feasibility and the clinical value of the enzyme-multiplied immunoassay technique （EMIT） monitoring of blood concentrations of cyclosporine A （CsA） in patients treated with CsA were investigated after kidney transplantation. The validation method was performed to the EMIT determination of CsA blood concentration, the CsA whole blood trough concentrations （Co） of patients in different time periods after renal transplantation were monitored, and combined with the clinical complications, the statistical results were analyzed and compared. EMIT was precise, accurate and stable, also with a high quality control. The mean postoperative blood concentration of CsA was as follows： 〈1 month, （281.4± 57.9）ng/mL; 2 - 3 months, （264.5 ± 41.2） ng/mL; 4 - 5 months, （236.4 ± 38.9） ng/mL; 6 - 12 months, （206.5± 32.6）ng/mL; 〉12 months, （185.6± 28.1）ng/mL. The toxic reaction rate of CsA blood concentration within the recommended therapeutic concentration was 14.1%, significantly lower than that of the none-recommended dose group （37.2%） （P〈0.05）; the transplantation rejection rate was 4.4%, significantly lower than that of the none- recommended dose group （22.5%） （P〈0.05）. Using EMIT to monitor the blood concentration of CsA as the routine laboratory method is feasible, and is able to reduce the CsA toxicity and rejection significantly, leading to achieving the desired therapeutic effect.
ABSTRACT
Objective To explore the relationship between adjustment of immunosuppressant and prognosis in renal transplantation recipients with pulmonary infection. Methods The clinical data of 98 patients with pulmonary infection following renal transplantation were retrospectively analyzed.Patients were divided into two groups: conventional group (n = 45) and immunosuppressant adjustment group (n = 53). The mortality, recovery time and rejection rate in two groups were analyzed under the statement of serious infection (SOFA≥12) and slight infection (SOFA＜ 12) by sequential organ failure assessment (SOFA) score. Results When the SOFA scores ≥ 12, the mortality and recovery time in immunosuppressant adjustment group were significantly lower than in conventional group (P＜0.05), but there was no significant difference in the rejection rate between two groups (P＞0.05). When the SOFA scores ＜11, there was no significant difference in mortality and recovery time between the two groups (P＞0.05). The incidence of rejection in immunosuppressant adjustment group was significantly higher than in conventional group (P＜0.05).Conclusion Mortality could be decreased and course of anti-infection treatment could also be shortened by adjusting the immunosuppressant in renal transplantation recipients with serious pulmonary infection (SOFA≥12). Immunosuppressant agent was proposed to maintain the original treatment protocol when the infection was slight (SOFA＜12).
ABSTRACT
In this paper was analyzed the biomechanical behavior of the mental fractured mandible under the rigid internal fixation (RIF). ANSYS and Pro/E were used to develop a 3-D finite element (3-D FE) model of the mental fractured mandible. By the use of boundary constraints, four biting conditions were simulated. The stress and strain of the mandible and the miniplate-screw were compared under two treatment regimens of one or two miniplate(s) fixation conditions. The strain was larges relatively when fixed with only one miniplate or under the unilateral biting condition, so it would not benefit the healing of bone. Through the biomechanical study, the 3-D FEA of fractured mandible can direct the clinical treatment, and it could serve as a foundation on which to carry out the subsequent biomechanical study for RIF of mandible.
Subject(s)
Humans , Biomechanical Phenomena , Computer Simulation , Finite Element Analysis , Fracture Fixation, Internal , Methods , Imaging, Three-Dimensional , Mandibular Fractures , Diagnostic Imaging , General Surgery , Tomography, X-Ray ComputedABSTRACT
This study was aimed to develop a 3-D finite element (3-D FE) model of the mental fractured mandible and design the boundary constrains. The CT images from a health volunteer were used as the original information and put into ANSYS program to build a 3-D FE model. The model of the miniplate and screw which were used for the internal fixation was established by Pro/E. The boundary constrains of different muscle loadings were used to simulate the 3 functional conditions of the mandible. A 3-D FE model of mental fractured mandible under the miniplate-screw internal fixation system was constructed. And by the boundary constraints, the 3 biting conditions were simulated and the model could serve as a foundation on which to analyze the biomechanical behavior of the fractured mandible.
Subject(s)
Adult , Humans , Male , Bone Plates , Bone Screws , Computer Simulation , Finite Element Analysis , Fracture Fixation, Internal , Imaging, Three-Dimensional , Mandible , Diagnostic Imaging , Mandibular Fractures , General Surgery , Models, Biological , Prosthesis Design , Prosthesis Implantation , Tomography, X-Ray ComputedABSTRACT
<p><b>OBJECTIVE</b>To explore the quantitative relationship between the intensity of psychosocial stress and the degree of overall health damages.</p><p><b>METHODS</b>A multi-group case-control study was designed and implemented. The cases included two groups of out-patients (177) and in-patients (214) in a hospital in Jianyang city, and controls (587) were from the follow-up cohort in the same city. Three groups were studied on the following contents: general demographic characteristics, psychosocial factors and the degree of health damages including mental, physical, and social status. Major statistical analyses were as follows: ranks test, ANOVA, cluster analysis, multinomial logistic regression and ordered-logit regression.</p><p><b>RESULTS</b>Ordered-logit regression model showed that the odds ratio of negative life-events on degree of health damages was 1.335 (P < 0.01). This result showed that there was a positive dose-effect relationship between the negative life-events score and overall health damages. The utility of social support to overall health had protective effect (OR = 0.513).</p><p><b>CONCLUSION</b>Negative life-events were the major risk factors to overall health, and there was a dose-effect relationship between negative events and health damages. Function of social support played a protective factor for health.</p>
Subject(s)
Humans , Analysis of Variance , Case-Control Studies , Cohort Studies , Educational Status , Health Status , Marital Status , Social Class , Stress, Psychological , PsychologyABSTRACT
AIM: The purpose of this study was to evaluate the mechanism of high altitude pulmonary edema (HAPE) and high altitude acute response (HAAR). METHODS: Pulmonary function and partial oxygen pressure were measured in 10 patients with HAAR and 6 patients with HAPE before and after bronchoalveolar lavage (BAL),10 high altitude healthy volunteers were served as control subjects. RESULTS: The partial oxygen pressure of HAAR and HAPE significantly decreased before BAL compared with control; DLCO%, DLCO/VA%, PaO_2 of HAPE increased significantly [from 76.01%?6.29%, 150.30%?15.20%, (31.73?3.01) mmHg before BAL to 103.31%?9.23%, 176.04%?16.10%, (45.31?3.56) mmHg after BAL]. The above parameters were also changed in HAAR and controls, but had no statistical significance. CONCLUSION: High concentration of proteins and cells in BAL fluid for HAPE, gas exchange impairment and PaO_2 increase after BAL suggest accumulation of protein-rich fluid and cells in the alveolar space plays a crucial role in the development of HAPE.