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Objective To investigate the clinical features of patients with drug-induced liver injury (DILI). Methods A retrospective analysis was performed for the clinical data of 1 376 patients with DILI who were admitted to 20 hospitals in Shaanxi Province, China, from 2009 to 2019 and were diagnosed with RUCAM scale as the diagnostic criteria, and these patients were analyzed in terms of sex, age, underlying diseases, suspected drugs causing DILI, clinical manifestations, laboratory examination, treatment process, and prognosis. The t -test and Wilcoxon test were used for comparison of continuous data between two groups, the chi-square test was used for comparison of categorical data between groups, and the Kruskal-Wallis H rank sum test was used for comparison of ordered polytomous data between groups. Results Among the 1 376 patients, there were 577(41.93%) male patients and 799 (58.07%) female patients, with a male/female ratio of 0.72:1. As for different age groups, the 40-60 years group had a higher incidence rate and accounted for 44.77%, and there was a significant difference in sex distribution between different age groups ( χ 2 =20.784, P =0.008). As for the three clinical types, there was no significant difference in incidence rate between men and women ( χ 2 =1.409, P =0.494), and there was a significant difference in the distribution of clinical types between different age groups ( χ 2 =47.025, P 0.05). Conclusion There is a high incidence rate of DILI in women and middle-aged and elderly people, and traditional Chinese medicine is the leading cause of DILI. Patients with different clinical types tend to have different prognoses, with a good overall prognosis.
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Purpose To investigate the clinicopathological characteristics and genetic variations of stage Ⅰ lung adenocarci-noma with high-grade components,according to the new grading system of the WHO classification of thoracic tumors(2021).Methods A retrospective analysis was conducted on the clini-cal data of 785 patients with stage Ⅰ lung adenocarcinoma.HE,EnVision immunohistochemistry and Victoria blue staining were used,common genetic variation(EGFR/KRAS/ALK/ROS1/RET)were detected by PCR method.The correlation between different high-grade components and clinical pathological charac-teristics as well as genetic variations in stage Ⅰ lung adenocarci-noma were analyzed.Results A total of 785 cases of stage Ⅰlung adenocarcinoma were enrolled,including 332 cases with high-grade components and 453 cases without high-grade compo-nents.Among the adenocarcinomas with high-grade components,there were 7 cases of grade 1,150 cases of grade 2,and 175 ca-ses of grade 3.The positive rates of tumor cells spreading through airspace(STAS),vascular invasion,and pleural inva-sion in grade 2 adenocarcinoma with two high-grade components(61.5％,21.2％,26.9％)were significantly higher than that of the adenocarcinomas with only one high-grade component(20.4％,7.1％,5.1％),but there was no significant differ-ence in grade 3 adenocarcinoma.The positive rate(39.0％)of STAS in the micropapillary group with one high-grade component in grade 2 adenocarcinoma was significantly higher than that in the complex glandular group(9.3％)and the solid group(0),while there was no significant difference between the latter two groups.Among the three groups there were no statistically signif-icant differences in grade 3 adenocarcinoma.In 167 cases of ad-enocarcinoma with two or more high-grade components,there were 74 cases(44.3％)of complex glands combined with mi-cropapillary components,67 cases(40.1％)of complex glands combined with solid components,8 cases(4.8％)of micropap-illary combined with solid components,and 18 cases(10.8％)of three types of components.The positive rates of pleural inva-sion and KRAS gene mutation or fusion gene(ALK/ROS1/RET)in the group of complex glands combined with solid(49.3％,28.3％)were significantly higher as compared to those in the group of complex glands combined with micropapil-lary(27.0％,8.6％).The positive rate of psammoma bodies in the group with high-grade components(24.7％)was significant-ly higher than that in those without high-grade components(3.5％,P＜0.001),and the positive rate of psammoma bodies in group of gene mutation(EGFR/KRAS)(40.4％)was higher than that in the no-gene mutation group(26.7％,P＜0.05).Conclusion The clinicopathological features of different high-grade components in stage Ⅰ lung adenocarcinoma are not identi-cal,suggesting that their invasiveness may have different biologi-cal backgrounds.Characteristic morphological observations are helpful.
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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and its variants continue to spread around the world, posing a great threat to global economic and public health. Influenza A virus, a major cause of influenza, has a wide host range and evolves rapidly. Influenza pandemics, which occur every 20 to 40 years, annual seasonal influenza epidemics, severe influenza and animal influenza viruses are all serious threats to public health. Clinical manifestations of infections caused by the two pathogens are very similar. It is of great significance to develop an effective bivalent vaccine for controlling alternating epidemics or co-infection of the two pathogens. This article reviewed the progress in the development of bivalent vaccines against SARS-CoV-2 and influenza A virus based on different platforms.
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Objective:To investigate the application value of intervention mapping-based health education on therapeutic cognitive perception of pulmonary arterial hypertension patients.Methods:Totally, 60 patients with pulmonary arterial hypertension from January 2018 to January 2021 in Huazhong Fuwai Central Vascular Disease Hospital were assigned to the experimental group and control group according to admission time, with 30 cases in each group. The control group received routine health education, while the experimental group implemented intervention mapping-based health education. The intervention effects were assessed by Beliefs about Medicine Questionnaire-Specific (BMQ-S), Morisky Medication Adherence Scale (MMAS), 6MWT as well as Borg Scale (BS).Results:At 1 month and 3 months after discharge, the scores of MMAS in the experimental group were significantly higher than in the control group[(5.43±1.17) points, (5.57±1.17) points vs (4.60±1.54) points and (4.87±1.41) points], the differences were statistically significant ( t=2.36, 2.10, both P<0.05). At 3 months after discharge, the scores of necessity belief subscale in the experimental group were higher than those in the control group [(22.93±2.63) points vs (21.27±2.73) points], concern belief subscale scores lower than in the control group [(12.40±2.54) points vs (14.13±3.01) points], 6MWT distance in the experimental group higher than in the control group [(532.13±38.51) m vs (507.03±51.13) m], BS scores lower than in the control group [(3.53±1.20) points vs (4.10±0.84) points], the differences were statistically significant ( t values were 2.12-2.41, all P<0.05). Conclusions:Intervention mapping-based health education can improve therapeutic cognitive perception and medication adherence of pulmonary arterial hypertension, it is helpful to promote rehabilitation of patients.
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@#To study the effects of nucleoside antiviral drug zidovudine (AZT) on the flexibility of global metabolism and liver glucolipid metabolic balance in mice, male ICR mice were given zidovudine intragastric administration for 12 weeks, and their water and food intake was recorded daily.Serum glucose (GLU) and triglyceride (TG) levels and serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels were detected after 12 weeks of administration.Oral glucose tolerance test (OGTT) and insulin tolerance test (ITT) were performed.HE staining was used to observe the pathological changes of liver.The gene levels of glucose transporter (Glut2), carnitine palmitate transferase (Cpt1α), medium chain acyl-coa dehydrogenase (Mcad), phosphoenolpyruvate carboxykinase (Pepck) and glucose-6-phosphatase (G6pase) were detected by RT-PCR.Western blot was used to detect the protein levels of insulin signaling Akt, P-Akt, Glut2, Mcad and Cpt1α in liver.The results showed that zidovudine significantly decreased lipid metabolism, impaired glucose tolerance, increased liver cell volume, significantly increased liver triglyceride (TG) and non-esterified fatty acid (NEFA) content, increased Glut2 gene expression, down-regulated fatty acid oxidative metabolism genes Cpt1α, Mcad and gluconeogenesis related genes after fasting, and down-regulated protein expression of Cpt1α.The results suggest that zidovudine can induce the disorder of glucose and lipid metabolism after fasting in a dose-dependent manner.
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Objective:To investigate the application value of advance care planning among patients with chronic heart failure, so as to provide reference for the clinical practice of advance care planning.Methods:A total of 62 chronic heart failure patients from October 2017 to November 2019 in Fuwai Central China Cardiovascular Hospital were assigned to control group and experimental group according to the enrolled time, with 31 cases in each group. The patients in the control group from October 2017 to October 2018 recieved routine nursing, the experimental group from November 2018 to November 2019 carried out advance care planning based on the routine care. Before and after 3 weeks of intervention, the fatigue symptom and psychological condition were assessed by the Multidimensional Fatigue Inventory (MFI-20) and Symptom Checklist 90 (SCL-90), respectively.Results:There was no significant difference in the score of MFI-20 and SCL-90 before intervention between the two groups( P>0.05). After 3 weeks of intervention, the mental fatigue scores and total scores in MFI-20 were (8.23 ± 2.77), (51.00 ± 5.03) points in the experimental group, significantly lower than those in the control group (10.23 ± 2.58), (54.06 ± 5.50) points, the differences were statistically significant ( t=2.94, 2.29, all P<0.05). After 3 weeks of intervention, the somatization, obsessive symptoms, depression, anxiety, hostility scores and total score of SCL-90 were (1.28 ± 0.14), (1.43 ± 0.09), (1.19 ± 0.12), (1.13 ± 0.08), (1.33 ± 0.07), (121.00 ± 3.68) points in the experimental group, significantly lower than those in the control group (1.82 ± 0.44), (1.73 ± 0.58), (1.69 ± 0.12), (1.78 ± 0.13), (1.39 ± 0.10), (144.69 ± 9.09) points, the differences were statistically significant ( t values were 2.76-23.06, all P<0.05). Conclusions:Advance care planning can effectively alleviate fatigue symptom and improve psychological condition of patients with chronic heart failure.
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Objective:To explore the characteristics and evolution trend of renal disease spectrum in Ningxia.Methods:The demographic, clinical manifestations and renal pathological examination results of patients who underwent renal biopsies in the General Hospital of Ningxia Medical University from August 1, 2008 to December 31, 2019 were collected and analyzed retrospectively. According to the time period of receiving renal biopsy, the patients were divided into 2008—2013 group and 2014—2019 group. The age and sex constituent, clinical manifestation, renal disease type, pathological types of primary and secondary glomerular disease and the main clinical manifestations of patients with diabetic nephropathy were compared between the two groups. The changing trend of renal disease spectrum in Ningxia from 2008 to 2019 was analyzed.Results:A total of 3 867 patients who underwent renal biopsies were enrolled in this study, with more males (53.71%, 2 077/3 867), and age of (39.59±14.05) years old. The most common clinical manifestation of patients receiving renal biopsies was nephrotic syndrome (36.33%, 1 405/3 867). Among them, primary glomerular diseases accounted for 78.79% (3047/3 867), followed by secondary glomerular diseases (18.57%, 718/3 867), renal tubulointerstitial diseases (1.45%, 56/3 867) and hereditary nephropathy (1.19%, 46/3 867). The most common primary glomerular disease was IgA nephropathy (44.60%, 1 359/3 047), followed by membranous nephropathy (30.75%, 937/3 047). The most common secondary glomerular disease was Henoch-Sch?nlein purpura nephritis (27.44%, 197/718), followed by lupus nephritis (25.07%, 180/718). Compared with the 2008—2013 group, the proportion of membranous nephropathy increased, the proportion of mesangial proliferative glomerulonephritis (non-IgA deposition) decreased (both P<0.001), the proportions of diabetic nephropathy and hypertensive renal damage increased, and the proportions of Henoch-Sch?nlein purpura nephritis and hepatitis B virus-associated glomerulonephritis decreased in 2014—2019 group (all P<0.01). Compared with the 2008—2013 group, the proportions of acute kidney injury, chronic renal failure, simple hematuria and urinary protein≤1.0 g/24 h increased in kidney biopsy patients in 2014—2019 group, while the proportion of nephrotic syndrome decreased (all P<0.05). Compared with the 2008—2013 group, the proportion of chronic renal failure in diabetic nephropathy patients increased during renal biopsy, and the proportion of albuminuria with hematuria decreased in 2014—2019 group (all P<0.05). Conclusions:Primary glomerular disease is the most common kidney disease in Ningxia. IgA nephropathy is the most common cause, and the proportion of membranous nephropathy is increasing year by year. Henoch-Sch?nlein purpura nephritis is the most common secondary glomerular disease, and the proportions of diabetic nephropathy and hypertensive renal damage are increasing year by year, suggesting that the screening of renal complications of metabolic diseases in Ningxia should be strengthened and pay more attention to the patients with mild abnormal urine test.
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Objective:To explore the relationship between aortic arch calcification (AoAC) and arteriovenous fistula (AVF) failure in maintenance hemodialysis (MHD) patients.Methods:The patients who underwent initial AVF and started MHD in the General Hospital of Ningxia Medical University from September 2016 to September 2017 were retrospectively recruited and prospectively followed up until two years after AVF surgery or withdrawal from MHD or death. Calcification of the aortic arch was estimated with plain chest radiology. The patients were divided into four groups (0-3 grade) according to the aortic arch calcification score (AoACs). Spearman correlation analysis was used to analyze the relationship between AoACs and AVF failure. Multivariate logistic regression was used to analyze the influencing factors of AVF failure.Results:A total of 165 MHD patients were included in this study, with age of (55.52±14.06) years old and 102 males (61.82%). Among 128 AoAC patients (77.6%), 45 patients were categorized as grade 1 (27.3%), 35 patients as grade 2 (21.2%) and 48 patients as grade 3 (29.1%). There was significant difference in the, age, pulse pressure, corrected calcium, phosphorus, diastolic blood pressure, intact parathyroid hormone and AVF failure between AoAC group and no AoAC group (grade 0 calcification) (all P<0.05). The results of Spearman correlation analysis showed that AoACs was positively correlated with AVF failure ( r=0.759, P=0.010), age ( r=0.407, P<0.001), pulse pressure ( r=0.575, P=0.006), and diabetes history ( r=0.848, P=0.049), blood calcium ( r=0.591, P=0.018), and blood phosphorus ( r=0.509, P=0.012), and negatively correlated with diastolic blood pressure ( r=-0.614, P=0.013). Multivariate logistic regression analysis showed that diabetes history ( OR=6.702, 95% CI 1.431-31.396, P=0.016), high corrected calcium ( OR=10.830, 95% CI 3.479-35.300, P=0.008), high phosphorus ( OR=3.792, 95% CI 1.128-12.750, P=0.031) and AoAC ( OR=4.473, 95% CI 1.490-13.428, P=0.008) were the independent influencing factors of AVF failure. Conclusions:AoAC is an independent risk factor for AVF failure in MHD patients. Evaluation of AoAC has predictive value for AVF failure.
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Objective:To explore the mechanism of Xijiao Dihuang Ddecoction (XJDHT) against sepsis-induced liver injury based on transcriptomics.Methods:Sixty C57BL/6 mice were randomly (random number) divided into the sepsis group, sepsis treatment with XJDHT and control group, with 20 mice in each group. The sepsis mouse model was established by intraperitoneal (i.p.) injection of lipopolysaccharide (LPS). The control group was intraperitoneally injected with the same amount of normal saline. The sepsis treatment with XJDHT group was injected with XJDHT (crude drug 187.5 mg) twice a day 2 days before modeling. After modeling, gastric feeding was continued twice a day, while the control group and sepsis group were gavaged with the same amount of normal saline. At 72 h after LPS intervention, 9 mice in each group were randomly selected. After anesthesia, part of the liver were taken for small RNA and RNA sequencing and analysis, and part of the liver were taken for pathological examination.Results:XJDHT could improve the histopathological changes of liver in septic mice, and alleviate some abnormally expressed microRNAs (mmu-mir-292a-5p, mmu-mir-871-3p, mmu-mir-653-5p, mmu-mir-293-5p, mmu-mir-155-3p, mmu-mir-346-5p, mmu-mir-187-5p, mmu-mir-3090-3p) and their target genes.Conclusions:XJDHT can reduce the liver histopathological changes in septic mice, and its mechanism may be related to XJDHT regulating the expression of important key genes of liver of sepsis like mmu-mir-187-5p and its target genes such as ADAM8, irak3 and PFKFB3
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OBJECTIVE@#To explore the genetic basis for a pedigree affected with hereditary multiple osteochondroma (HMO).@*METHODS@#Peripheral blood samples were collected from the proband and members of his pedigree with informed consent. Following extraction of genomic DNA, all coding exons and flanking intronic sequences (-10 bp) of the EXT1 and EXT2 genes were subjected to targeted capture and next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing.@*RESULTS@#A heterozygous nonsense variant (c.1911C>A) was found in exon 10 of the EXT1 gene in the proband and his affected father but not in a healthy sister and normal controls. The variant was classified as a pathogenic based on the guidelines of the American College of Medical Genetics and Genomics (PVS1+PM2+PP1). Bioinformatic analysis predicted that the c.1911C>A variant may be disease-causing via nonsense-mediated mRNA decay and anomalous splicing.@*CONCLUSION@#The c.1911C>A variant probably underlay the disease in this pedigree. Discovery of this variant enriched the variant spectrum of HMO.
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Humains , Codon non-sens , Exons/génétique , Maladie des exostoses multiples/génétique , Hétérozygote , PedigreeRÉSUMÉ
Objective:To systematically analyze the clinical features of severe fever with thrombocytopenia syndrome (SFTS) and to provide evidence for the prevention and treatment of SFTS.Methods:Relevant studies of SFTS from six databases, including China National Knowledge Infrastructure, Wanfang Database, Chongqing VIP, PubMed, Cochrane Library and Embase from January 2009 to May 2019 were systematically searched and identified. The literatures were screened and the data of patients′ epidemiology, clinical manifestations, laboratory examinations and prognosis were obtained. Revman 5.2 software was used for meta analysis.Results:Sixty-eight Chinese literatures and fourteen English literatures encompassing 6 780 patients with SFTS were included in the final analysis. Of these patients, 845 cases (12.46%) died. SFTS mostly occurred in mountainous and hilly areas, and farmers (3 637 cases) were the usual victims. The onset season was mostly in summer and the peak was from May to August each year. There were 1 434 patients had a clear history of tick bites, and 21 cases were human-to-human transmitted.There were 6 071 cases (89.54%) presented with fever, 5 407 cases (79.75%) presented with fatigue, 3 140 cases (46.31%) presented with muscle soreness, and 2 300 cases (33.92%) presented with chills.Using random effects model for meta analysis, the levels of creatine kinase (CK) (mean difference ( MD)=500.40, 95% confidence interval ( CI) 380.51-620.28, P<0.01) and lactic acid dehydrogenase (LDH)( MD=442.81, 95% CI 152.85-732.78, P=0.003) in severe patients were both higher than those in mild patients, and the difference were both statistically significant. The risk of death increased in patients aged>60 years( MD=8.19, 95% CI 4.03-12.36, P<0.01). The levels of CK( MD=530.92, 95% CI 29.27-1 032.56, P=0.040), LDH( MD=609.28, 95% CI 80.25-1 138.31, P=0.020), urea nitrogen ( MD=4.67, 95% CI 3.05-6.30, P<0.01) and creatinine ( MD=43.05, 95% CI 23.49-62.62, P<0.01) of patients in the death group were all higher than those in the survival group. The differences were all statistically significant. Conclusions:During the course of SFTS, the patients may show impaired blood system, heart, liver and kidney functions with high mortality. Clinicians should timely monitor the changes of blood routine, myocardial enzyme spectrum, liver and kidney functions and other indicators, so as to find cardiovascular and other system complications as early as possible. Timely treatment could not only reduce liver, heart and other organ injuries, but also reduce mortality.
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Objective@#To investigate residual hearing of children severe and profound sensorineural deafness in whom wave V was not found in auditory brainstem response(ABR) testing, and to emphasize the importance of objective audiological tests.@*Methods@#Two hundred and fifty-two children who were admitted to the Second Affiliated Hospital of Zhengzhou University between January 2015 and April 2018, with an average age of 20 months from 72 days to 4 years, received a full battery of objective audiological tests consisting of distortion product otoacoustic emission(DPOAEs), tympanometry, auditory brainstem responses(ABRs), 40 Hz auditory event related potential(40 HzAERP) and auditory steady-state response(ASSRs).There were 159 males(318 ears) and 93 females(186 ears). Residual hearing obtained by 40 HzAERP、ASSR of 252 children with sensorineural deafness was studied in relation to the absence of wave V in click ABR. SPSS 16.0 software was used to analyze the data.@*Results@#Four hundred and forty-four ears of 504 ears have residual hearing of different degrees at different frequencies(88.1%),60 ears (11.9%) were found in whom responses was not found in 40 HzAERP、ASSR testing; Seventy-two ears(14.3%) in 38 patients were tested cochlear microphonic potentials (CMs).@*Conclusion@#In children hearing evaluations,a full battery of objective audiological tests could better investigate residual hearing; The CMs were tested could provide the Audiotery Neuropathy diagnosis in infants with OAEs and ABR absent.
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OBJECTIVE： To establish a method for simultaneous determination of eleven active constituents in Zhenwutang decoction， such as 5-hydroxymethylfurfural， （+）-cianidanol， paeoniflorin， benzoylaconitine， benzoylhypacoitine， benzoylpaeoniflorin， 6-gingerol， 8-gingerol， atractylenolide Ⅱ， 6-shogaol and pachymic acid. METHODS： HPLC method was adopted. The separation was performed on Phenomenex Kinetex C18 column with mobile phase consisted of acetonitrile-0.2 ％ phosphoric acid solution（gradient elution） at flow rate of 1.0 mL/min. The detection wavelength was set at 285 nm （4.4-7 min， 5-hydroxymethylfurfural）， 203 nm [7-12 min，（+）-cianidanol]， 233 nm （12-50 min，paeoniflorin， benzoylaconitine， benzoylhypacoitine， benzoylpaeoni- florin）， 200 nm （50-62.3 min， 6-gingerol， 8-gingerol； 62.9-90 min， 6-shogaol， pachymic acid） and 222 nm （62.3-62.9 min， atractylenolide Ⅱ）. The column temperature was set at 35 ℃， and the sample size was 20 μL. RESULTS： The linear ranges of 5-hydroxymethylfurfural， （+） -cianidanol， paeoniflorin， benzoylaconitine， benzoylhypacoitine， benzoylpaeoniflorin， 6-gingerol， 8-gingerol， atractylenolide Ⅱ， 6-shogaol， pachymic acid were 0.62-12.47 μg/mL （r＝0.999 6），2.36-47.25 μg/mL （r＝0.999 7），200.80-4 016 μg/mL （r＝0.999 7），4.45-89.04 μg/mL （r＝0.999 6），4.28-85.54 μg/mL （r＝0.999 5），5.16-103.13 μg/mL （r＝0.999 9），5.53-110.66 μg/mL （r＝0.999 9），0.84-16.89 μg/mL （r＝0.999 8），0.60-12.04 μg/mL （r＝0.999 9），0.53-10.62 μg/mL （r＝0.999 5），1.04-20.78 μg/mL （r＝0.999 7）， respectively. The limits of quantitation were 0.155， 0.590， 1.210， 1.112， 1.070， 0.258， 0.553， 0.421， 0.153， 0.354， 0.431 μg/mL， respectively. The limits of detection were 0.047， 0.179， 0.134， 0.337， 0.324， 0.078， 0.168， 0.128， 0.046， 0.107， 0.131 μg/mL， respectively. RSDs of precision， stability and reproducibility tests were all lower than 3％. The average recovery rates were 96.06％-103.01％（RSD＝2.64％，n＝6）， 95.11％-101.57％（RSD＝2.58％，n＝6）， 97.22％-102.11％（RSD＝1.93％，n＝6）， 96.43％-102.78％（RSD＝2.35％，n＝6）， 96.42％-101.43％（RSD＝2.15％，n＝6）， 96.86％-102.05％（RSD＝2.10％，n＝6）， 95.32％-100.55％（RSD＝1.87％，n＝6）， 97.04％-103.25％（RSD＝2.22％，n＝6）， 96.78％-103.22％（RSD＝2.62％，n＝6）， 97.04％-103.14％（RSD＝2.28％，n＝6）， 97.08％-103.51％（RSD＝2.94％，n＝6）， respectively. CONCLUSIONS： The method is accurate and specific， and suitable for simultaneous determination 11 active components of Zhenwutang decoction.
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OBJECTIVE@#To explore the phenotype and pathogenesis of a fetus with a rare chromosomal abnormality.@*METHODS@#The fetus was analyzed by clinical prenatal ultrasonography, G-banding karyotyping and next generation sequencing (NGS).@*RESULTS@#Prenatal ultrasonography of the fetus showed Dandy-Walker syndrome, growth restriction, and right-heart system dysplasia. The fetus had a chromosomal karyotype of 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22). Duplication of 11q23.3q25 and 22q11.1q21 were also detected by NGS. The chromosomal translocation carried by the fetus was derived from his father.@*CONCLUSION@#Duplications of chromosome 11q23.3q25 and 22q11.1q11.21 segments probably underlie the Dandy-Walker syndrome, growth restriction, and hypoplasia of the right heart system in the fetus.
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Femelle , Humains , Grossesse , Maladies chromosomiques , Chromosomes humains , Foetus , Caryotypage , Diagnostic prénatal , Translocation génétique , TrisomieRÉSUMÉ
Objective To investigate the situation and the causes of neonatal death in Henan Province.Methods This study retrospectively analyzed the clinical data of 277 neonates who died at 18 hospitals in Henan Province in 2017.Distribution and causes of neonatal deaths,differences between perinatal conditions of premature and term/post-term infants,causes of early (＜ 7 d) and late (7-28 d) neonatal deaths and the differences in neonatal death cases between Maternal and Child Health Care Hospitals and General/Children's Hospitals were analyzed.We used t,rank-sum and Chi-square test (or corrected Chi-square test,or Fisher's exact test) for statistical analysis.Results (1) A total of 50 993 newboms were admitted to the 18 hospitals in 2017,297 of which died with a mortality of 5.82‰.After excluding 20 cases with uncertain birth or maternal pregnancy history or clinical data,277 cases with complete data were analyzed.Among them,168 (60.6％) were preterm neonates and 109 (39.4％) were term/post-term ones.Early and late neonatal deaths accounted for 74.0％ (205 cases) and 26.0％ (72 cases),respectively.(2) The top five causes of neonatal deaths were infection (78 cases,28.2％),asphyxia (54 cases,19.5％),neonatal respiratory distress syndrome (NRDS,33 cases,11.9％),severe congenital malformations (26 cases,9.4％) including cyanotic congenital heart diseases,digestive malformations,airway malformations and neural tube defects and pulmonary hemorrhage (23 cases,8.3％).Among them,the top three causes of early neonatal deaths were asphyxia (48 cases,23.4％),infection (43 cases,21.0％) and NRDS (33 cases,16.1％),while the main causes of late neonatal deaths were infection (35 cases,48.6％),major congenital malformations (9 cases,12.5％) and chromosome abnormities/inherited metabolic diseases (7 cases,9.7％).(3) Maternal complications during pregnancy accounted for 79.1％ (219 cases) and the predominant types were pregnancy-induced hypertension (43 cases,19.6％),followed by infection (36 cases,16.4％),placental-related conditions (32 cases,14.6％),gestational diabetes mellitus (23 cases,10.5％),hypothyroidism (20 cases,9.1％),fetal distress (18,8.2％),twin-twin transfusion syndrome (10 cases,4.6％) and cholestasis syndrome (9 cases,4.1％).(4) Compared with the term/post-term cases,the preterm cases had higher proportions of multiple births [27.4％ (46/168) vs 6.4％ (9/109),x2=14.016,P ＜ 0.05],assisted reproduction [7.1％ (12/168) vs 0.9％ (1/109),x2=4.421,P ＜ 0.05] and maternal hypertensive disorders of pregnancy [21.4％ (36/1 68) vs 6.4％ (7/109),x2=11.353,P ＜ 0.05],infection [16.7％ (28/168) vs 7.3％ (8/109),x2=4.295,P ＜ 0.05] and twin-to-twin transfusion syndrome [6.0％ (10/168) vs 0.0％ (0/109),x2=6.707,P ＜ 0.05].(5) Among all the early neonatal deaths,preterm cases had a higher incidence of NRDS than term/post-term neonates [20.3％ (27/133) vs 8.3％ (6/72),x2=1 1.937,P ＜ 0.05],but lower incidence of meconium aspiration syndrome (MAS),severe congenital malformations and chromosome abnormalities/inherited metabolic diseases [0.8％ (1/133) vs 5.6％ (4/72),x2=4.508;3.8％ (5/133) vs 16.7％ (12/72),x2=10.233;1.5％ (2/133) vs 6.9％ (5/72),~=4.172;all P ＜ 0.05].Among the late neonatal deaths,the incidence of severe intracranial hemorrhage in preterm infants was higher than that in term/post-term neonates [7.1％ (3/42) vs 0.0％ (0/30),x2=2.205,P ＜ 0.05].(6) Compared with the cases in General/Children's Hospitals,those in Maternal and Child Health Care Hospitals showed a higher proportion of preterm neonatal deaths [67.3％ (105/156) vs 52.1％ (63/121),x2=6.010,P ＜ 0.05],younger gestational age [(32.8±5.3) weeks vs (34.6±4.9) weeks,t=3.072,P ＜ 0.05],lower birth weight [(2 132.6± 1 014.5) g vs (2 409.4±987.3) g,t=-2.513,P ＜ 0.05],and higher average age of death [M(P25-P75),3 (1-8) d vs 2 (1-4) d,Z=3.710,P ＜ 0.05].Conclusions Neonatal death occurs mainly within one week after birth in those with maternal complications.Late preterm deaths and term/post-term cases account for nearly half of total neonatal deaths.The causes of death for preterm and term/post-term newborns vary with postnatal age.Infection,asphyxia and severe congenital malformations are important causes of neonatal deaths.
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<p><b>OBJECTIVE</b>To detect potential mutation of EXT1 gene in a pedigree affected with multiple osteochondroma and explore its pathogenic mechanism.</p><p><b>METHODS</b>The coding regions and their flanking sequences of the EXT1/EXT2 genes were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified by excluding possible single nucleotide polymorphisms and bioinformatics analysis. Transcripts of the EXT1 gene in the proband were analyzed by TA clone-sequencing, with its abundance compared with that of healthy controls.</p><p><b>RESULTS</b>DNA sequencing has identified in the proband a novel heterozygous point mutation (c.1164+1G to A) at the 5'splice sites of intron 3 of the EXT1 gene. The same mutation was not found in the healthy controls. Bioinformatics analysis indicated that the mutation is highly conserved and can lead to skipping of exon 3 or aberrant splicing. TA clone-sequencing indicated that the numbers of transcripts with skipping of exon 3 has significantly increased in the proband (< 0.05) compared with the controls.</p><p><b>CONCLUSION</b>The c.1164+1G to A mutation has resulted in skipping of exon 3 in a proportion of EXT1 gene transcripts. As the result, the number of transcripts with tumor suppressing function is relatively reduced and has ultimately led to the tumors.</p>
Sujet(s)
Adulte , Enfant , Femelle , Humains , Mâle , Séquence nucléotidique , Maladie des exostoses multiples , Génétique , Données de séquences moléculaires , N-acetylglucosaminyltransferase , Génétique , Mutation ponctuelle , Sites d'épissage d'ARN , Épissage des ARNRÉSUMÉ
Objective To explore the effects of vasoactive intestinal peptide (VIP)on the ratio of CD4+CD25+Treg/CD4+T cell and the expression of TGF-β1 in experimental autoimmune encephalomyelitis (EAE)rats. Methods We randomly divided 60 healthy female Wistar rats into normal control group,EAE control group,VIP low-dose group and VIP high-dose group.We used myelin basic protein (MBP)+ complete adjuvant (CFA)to establish EAE model. Since the day of model construction, the low- and high-dose VIP groups received intraperitoneal injection of 4 nmol/kg (0.2 mL)and 16 nmol/kg (0.8 mL)of VIP every other day,respectively;normal control group and EAE group received injection of saline of 0.8 mL for 10 days in a row.We recorded the peak of neurological dysfunction score (NDS)changes in the rats,observed the pathological changes and GFAP+astrocyte activation in the brain at the morbidity peak of rats with HE staining,and detected the ratio of CD4+CD25+Treg/CD4+T in the spleen with FACS and TGF-β1 cytokine level in brain tissue with ELISA.Results The peak nerve dysfunction score was decreased in each VIP dose group.In normal control group,there were decreased inflammatory cell infiltration and decreased number of active astrocytes in the brain tissue.The degree of infiltration of inflammatory cells and astrocyte activation in VIP control groups were significantly lower than those in EAE group.The CD4+CD25+Treg/CD4+T cell ratio of the spleen tissue in each dose VIP treated group rats was higher than that in EAE control group.The cytokine level of TGF-β1 in the brain tissue increased in each VIP dose group in the dose-dependent manner.Conclusion Through up-regulating the ratio of CD4+CD25+Treg/CD4+T cell in the spleen tissue,increasing TGF-β1 content in brain tissue,and inhibiting the infiltration of inflammatory cells and the astrocyte activation,VIP plays an important role in prevention and control of EAE.
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ABSTRACT:Objective To investigate the effect of SDF-1/CXCR7 on inflammatory cytokine synthesis and secretion in gastric cancer SGC-7901 cells.Methods CXCR7 gene in SGC-7901 cells was silenced by shRNA lentiviral vector and the expression of CXCR7 was detected using Western blot and Real-time PCR.There were four groups as follows:LV-shRNA-NC,LV-shRNA-NC+SDF-1,LV-shRNA-CXCR7,and LV-shRNA-CXCR7+SDF-1 groups.Real-time PCR was used to detect the mRNA expressions of TNF-α,IL-1β,IL-6 and IL-8.ELISA was used to detect the protein levels of TNF-α,IL-1β,IL-6 and IL-8 in the culture supernatant.Western blot was used to detect the protein expressions of NF-κB pathway.Results ① Transfection of SGC-7901 cells with CXCR7-shRNA lentiviral vector resulted in a significantly decreased expression of CXCR7 at both mRNA and protein levels (all P<0.01).② Compared with those in LV-shRNA-NC group,IL-6 and IL-8 mRNA expressions and protein levels in the culture supernatant were increased in LV-shRNA-NC+SDF-1 group (P<0.01 )and decreased in LV-shRNA-CXCR7 group (P<0.05).Compared with those in LV-shRNA-NC+SDF-1 group,the expressions of IL-6 and IL-8 at mRNA and protein levels in the culture supernatant were significantly cut down in LV-shRNA-CXCR7+SDF-1 group (P<0.01 ).However,the expressions of TNF-αand IL-1βat mRNA and protein levels in the culture supernatant were not significantly changed by SDF-1 and CXCR7 shRNA.③ The protein expressions of nuclear NF-κB p65,t-IκBαand p-IκBαexhibited no significant differences among the four groups.Conclusion SDF-1/CXCR7 can promote the synthesis and secretion of inflammatory cytokines IL-6 and IL-8 in gastric cancer SGC-7 9 0 1 cells through an NF-κB-independent pathway.
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This study aimed at exploring the mechanism of the rapid antidepressant effects of Yueju pill on depression of Parkinson's disease (DPD).The fast antidepressant effects of Yueju pill in this study was evaluated by behavior tests,such as open field test (OFT),tail suspension test (TST),forced swimming test (FST) and sucrose preference test (SPT) according to the modeling method of subacute DPD in the literature.In vitro experiment was implemented using PC12 cells.Moreover,the protective effects of Yueju pill on 1-methyl-4-phenylpyridinium (MPP+) induced neural injury with the engagement of cAMP response element binding protein (CREB) were expounded.As a result,it was found that the immobility time of the mice in the model group was significantly longer than that in the normal group in TST and FST tests (P ＜ 0.01),and the SPT ratio of mice in the model group remarkably decreased (P ＜ 0.01).In addition,the immobility time of DPD mice was shortened in the FST test after administering Yueju pill (P ＜ 0.05),while the SPT ratio was increased (P ＜ 0.01).Yueju pill took the effects on the third day after a single administration.The phosphorylation of CREB (p-CREB) in MPP+ induced PC12 cells was decreased in comparison with the model group,while the expression of p-CREB was up-regulated with the administration of Yueju pill (P ＜ 0.01).In conclusion,DPD was quickly mitigated after the treatment of Yueju pill,the activation of CREB signaling pathway and its neuroprotective effects may be the mechanism behind it.