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1.
Chinese Critical Care Medicine ; (12): 777-781, 2022.
Article in Chinese | WPRIM | ID: wpr-956054

ABSTRACT

With global warming and frequent heat waves, the incidence of heat-related-illness has gradually increased, and heatstroke is the most serious clinical syndrome, with high mortality and incidence of sequelae. Effective heatstroke warning aims to reduce the incidence and the harm of heatstroke by monitoring certain parameters and forecasting the possibility of suffering heat illness, however, there is no unified summary of the heatstroke early warning system at present. The occurrence of heatstroke involves two key aspects: climate environment and individual susceptibility, and individual susceptibility is manifested as the difference in heat tolerance ability. This article represents the current early warning system of heatstroke from climate environment, such as effective temperature, heat index, wet bulb globe temperature (WBGT) index, somatosensory temperature, etc., and individual susceptibility, for the reference of research and development in this field.

2.
International Journal of Traditional Chinese Medicine ; (6): 716-720, 2022.
Article in Chinese | WPRIM | ID: wpr-954369

ABSTRACT

Linarin, as a natural coumponent belongs to flavonoid glycoside, is widely existed in herbal plants such as chrysanthemum indicum and Mongolian flower, which has a variety of pharmacological effects, such as anti-inflammation, anti-cancer, liver protection, analgesia, antipyretic, anti-oxidation, anti-apoptosis, sedation and sleep, neuroprotection, preventing and treating hypertension, treatingdiabetes, preventing and treating osteoporosis, whitening, skin care and sunscreen. It is difficult to dissolve in water and has poor oral efficacy, but when combined with different substances or combined (forming phospholipid complex), its bioavailability can be improved, so as to improve its pharmacological efficacy.

3.
Chinese Journal of Digestion ; (12): 681-685, 2022.
Article in Chinese | WPRIM | ID: wpr-958352

ABSTRACT

Objective:To evaluate the efficacy and safety of linaclotide with polyethylene glycol in bowel preparation.Methods:From September 2021 to February 2022, 240 patients who visited the Department of Gastroenterology, Third People′s Hospital of Hubei Province, Jianghan University and underwent colonoscopy were selected. According to the random number table, in the ratio of 1 to 1, the patients were divided into the linaclotide with polyethylene glycol group and the simple polyethylene glycol group, with 120 cases in each group. The patients in the linaclotide with polyethylene glycol group took 580 μg linaclotide and 2 L polyethylene glycol electrolyte powder solution, and the patients in the simple polyethylene glycol group took 3 L polyethylene glycol electrolyte powder solution. The Boston bowel preparation scale(BBPS) score, the detection rate of polyps or adenomas, the insertion time of colonoscopy, the withdrawal time of colonoscopy, the time of the first defecation, the frequency of defecations, the success rate of cecal intubation, the occurrence of adverse effects and the satisfaction rate of patients were compared between the 2 groups. Independent sample t test and chi-square test were used for statistical analysis. Results:A total of 235 patients completed bowel preparation and accepted colonoscopy. There were no statistically significant differences in the BBPS score, the detection rate of polyps or adenomas, the insertion time of colonoscopy, the withdrawal time of colonoscopy, the success rate of cecal intubation and the frequency of defecations between the linaclotide with polyethylene glycol group and simple polyethylene glycol group(7.3±1.1 vs. 7.0±1.2; 58.1%, 68/117 vs. 60.2%, 71/118; 38.5%, 45/117 vs. 39.8%, 47/118; (4.2±1.9) min vs.(4.3±1.6) min; (5.9±2.7) min vs.(6.2±2.4) min; 100.0%, 117/117 vs. 100.0%, 118/118; 5.3±2.3 vs. 5.1±2.7; all P>0.05). The rate of adverse effects of the linaclotide with polyethylene glycol group was lower than that of simple polyethylene glycol group(25.6%, 30/117 vs. 39.8%, 47/118), the satisfaction rate of patients was higher than that of the simple polyethylene glycol group (93.2%, 109/117 vs. 76.3%, 90/118), and the differences were statistically significant( χ2=0.24 and 0.64, P=0.018 and 0.031). Conclusion:Compared with the 3 L polyethylene glycol regimen, 580 g linaclotide with 2 L polyethylene glycol regimen can achieve the same bowel preparation effect with higher safety and patient satisfaction, which is worthy of clinical application.

4.
International Journal of Pediatrics ; (6): 44-47, 2022.
Article in Chinese | WPRIM | ID: wpr-929801

ABSTRACT

The complete mucosal barrier of the healthy intestine is the line of defense to prevent the translocation of substances.Many animal models and human pathological studies have proved that the changes of intestinal mucosal barrier function are closely related to the occurrence and treatment of liver disease.This review summarizes the composition of intestinal mucosal barrier, its interaction with liver injury and potential therapeutic targets.

5.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1579-1581, 2021.
Article in Chinese | WPRIM | ID: wpr-908015

ABSTRACT

Clinical data, nutrition support and 6-year follow-up results of a patient with Tricho-hepato-enteric syndrome (THES) diagnosed in the Children′s Hospital of Nanjing Medical University in December 2013 were analyzed.The patient suffered severe malnutrition, growth retardation, hypophosphatemia, hypoglobulinemia, high nutritional risk status and significant intestinal dysfunction.The genetic testing revealed SKIV2 L gene variation in this case of THES.During the acute exacerbation of diarrhea, enteral nutrition and periodical short-term parenteral nutrition were given as nutrition support.Deep-hydrolyzed formula by oral and low-fat, low-residue, high-quality-protein diet was given during the remission phase.At last, the diarrhea and nutritional status of the patient improved gradually.The growth and development, including neuromotor development of the case also caught up to children with the same age, and he was capable of schooling.It is suggested that rational individualized nutrition support can significantly improve intestinal function and nutritional status of children with THES, which overcome the dangerous period, improve the quality of life and prolong the survival time.

6.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1514-1517, 2021.
Article in Chinese | WPRIM | ID: wpr-908002

ABSTRACT

Colonic dysmotility is a common gastrointestinal motility disease in children, with the main manifestations of abdominal distension and constipation.Colonic manometry is currently considered as a standard diagnostic method for assessing colonic motility, which real-time measures intracolonic pressure and the shape and coordination of colonic muscle pressure waves at rest and stimulating states and thus qualitatively and quantitatively assess the colonic movement.Recently, high-resolution colonic manometry has been rapidly developed into a major technique for obtaining more effective information involved in the physiology and/or pathophysiology of colonic contractile activity in colonic dysmotility patients.This review focuses on the development of colonic manometry and its clinical application in children with colonic dysmotility.

7.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1480-1483, 2021.
Article in Chinese | WPRIM | ID: wpr-907994

ABSTRACT

Objective:To investigate the role and clinical significance of T follicular helper (Tfh) cells in the pathogenesis of eosinophilic gastroenteritis (EG) in children.Methods:A total of 17 children diagnosed with EG in the Department of Gastroenterology, Children′s Hospital of Nanjing medical University from October 2018 to January 2020 were recruited as EG group.During the same period, 15 children diagnosed with colon polyps were included as control group.Flow cytometry was used to detect Tfh cells and their functional molecules, including inducible costimulatory molecules (ICOS) and programmed cell death protein 1 (PD-1) in peripheral blood of the 2 groups.Results:The median (interquartile range) of Tfh cell frequency in peripheral blood of children with EG group was 7.3 (2.6)%, which was significantly higher than that of controls 2.8 (1.4)% ( P<0.05). There were significant differences in the median (interquartile range) of ICOS [1.5 (1.3)% vs.0.1 (0.2)%] and PD-1 expressions [1.8 (3.2)% vs.0.7 (0.6)%] on Tfh cells between children with EG group and control group (all P<0.05). The frequency of Tfh cells in the peripheral blood of children with EG was positively correlated with the expressions of ICOS ( r=0.746, P<0.05) and PD-1 ( r=0.893, P<0.05), and immunoglobulin E (IgE) level ( r=0.587, P<0.05). Conclusions:The frequency of Tfh cells in peripheral blood of children with EG significantly increases, which are proliferative and overexpressed with ICOS and PD-1.Moreover, the frequency of Tfh cells of EG patients is positively correlated with the level of IgE.The abnormal expression of Tfh cells may play a promoting role in the mechanism of EG.

8.
International Journal of Pediatrics ; (6): 468-472, 2021.
Article in Chinese | WPRIM | ID: wpr-907260

ABSTRACT

Small intestinal bacterial overgrowth(SIBO)is associated with various diseases in children.The pathogenesis involves gastric acid secretion, intestinal motility, anatomical structure and immune function.Breath test is widely used clinically because its simplicity and noninvasion, but its sensitivity and specificity are unstable.Bacterial culture of proximal intestinal fluid has been the gold standard in the past, but it is not easy to be popularized clinically for invasive examination.Next generation sequencing technology may provide function and composition of the intestinal flora.Finding a simple and accurate detection method to diagnose SIBO is an urgent problem.This paper reviews the progress in research on the pathogenesis and diagnostic methods of SIBO in children.

9.
Chinese Journal of Emergency Medicine ; (12): 1438-1443, 2021.
Article in Chinese | WPRIM | ID: wpr-930191

ABSTRACT

Objective:To evaluate the feasibility of brain injury after cardiopulmonary resuscitation (CPR) in rats based on T2WI image texture analysis.Methods:Eighteen SD rats were randomly divided into the sham group ( n=8) and model group ( n=10). The rats in the model group underwent MRI scanning at 6 h after return of spontaneous circulation (ROSC), and the rats in the sham group received MRI scanning at 6 h after the operation. The differences in the texture features of T2WI images and the expressions of AQP4 and NSE between the two groups were analyzed. The receiver operating characteristic curve (ROC) was used to evaluate the diagnostic efficacy of statistically different texture features between the two groups for brain injury. The associations between texture features and AQP4 and NSE expressions in the sham group and model group were analyzed using Spearman correlation coefficients. Results:The minimum intensity, standard deviation, and inverse difference moment of the whole brain T2WI texture features of the model group were significantly lower than those of the sham group ( P<0.05), while the difference entropy and characteristics of high gray in homogeneity were significantly higher than those of the sham group ( P<0.05). The difference entropy was the best with an area under curve (AUC) of 0.922, a sensitivity of 100% and a specificity of 75%. The AQP4 and NSE expressions in the model group were significantly higher than those in the sham group ( P<0.05). The minimum intensity value was positively correlated with AQP4 and NSE expressions ( r=0.501, 0.568, P=0.048, 0.022). The standard deviation was positively correlated with AQP4 and NSE expressions ( r=0.620, 0.530, P=0.010, 0.035). The difference entropy was negatively correlated with AQP4 expression ( r=-0.535, P=0.033). Conclusions:Texture analysis on T2WI images can evaluate the degree of brain edema and neuronal damage. The minimum intensity, standard deviation, and difference entropy are sensitive indicators to evaluate brain injury after CPR, and difference entropy has the highest sensitivity and specificity.

10.
Chinese Journal of Applied Clinical Pediatrics ; (24): 779-781, 2021.
Article in Chinese | WPRIM | ID: wpr-882919

ABSTRACT

Hyperlipidemia pancreatitis in children is mostly genetic metabolic disease.The incidence of acute pancreatitis in children is only (3-13)/100 000, and pancreatitis caused by hyperlipidemia accounts for 9% of acute pancreatitis.A child suffering from V-type hyperlipidemia pancreatitis was admitted to the Children′s Hospital Affiliated to Nanjing Medical University in July 2019.The missense mutation at position c. 2770G>A of CFTR gene (nucleotide 2770 in coding region changed from guanine to adenine) in children was detected by gene sequencing, thus resulting in amino acid change p. D924N.It is extremely rare to report that CFTR gene mutation causes hereditary pancreatitis, and there is no literature report on c. 2770G>A site.This case is reported as follows, hoping to provide reference and inspiration for pediatricians.

11.
Chinese Journal of Biotechnology ; (12): 1494-1509, 2021.
Article in Chinese | WPRIM | ID: wpr-878651

ABSTRACT

In 1990s, Bailey and Stephanopoulos put forward the concept of classic metabolic engineering, aiming to use DNA recombination technology to rewire metabolic network to achieve improved cell performance and increased target products. In the last 30 years since the birth of metabolic engineering, life science have flourished, and new disciplines such as genomics, systems biology and synthetic biology have emerged, injecting new connotations and vitality into the development of metabolic engineering. Classic metabolic engineering research has entered into an unprecedented stage of systems metabolic engineering. The application of synthetic biology tools and strategies, such as omics technology, genomic-scale metabolic model, parts assembly, circuits design, dynamic control, genome editing and many others, have greatly improved the design, build, and rewiring capabilities of complex metabolism. The intervention of machine learning and the combination of evolutionary engineering and metabolic engineering will further promote the development of systems metabolic engineering. This paper analyzes the development of metabolic engineering in the past 30 years and summarizes the novel theories, techniques, strategies, and applications of metabolic engineering that have emerged over the past 30 years.


Subject(s)
Gene Editing , Metabolic Engineering , Metabolic Networks and Pathways/genetics , Synthetic Biology , Systems Biology
12.
Chinese Critical Care Medicine ; (12): 121-125, 2020.
Article in Chinese | WPRIM | ID: wpr-866765

ABSTRACT

Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. The pathophysiology core issue is that the body initiates a severe inflammatory reaction in response to the invasion of pathogenic microorganisms at the initial stage of disease. Subsequently, the body begins to fight inflammation in order to balance immunity status and eventually induces the immune paralysis or immunosuppressive state characterized by exhaustion of immune cell. Both in innate immunity and in acquired immunity, some co-suppressor molecules on the surface of immune cells play important roles in immunosuppression, such as, programmed death receptor-1 (PD-1), T cell immunoglobulin and mucin-containing protein-3 (TIM-3), cytotoxic T lymphocyte associated antigen-4 (CTLA-4), natural killer cell receptor 2B4 (CD244), B and T lymphocyte attenuator (BTLA) and NKG2A (CD94), et al. Blocking the interaction between these co-suppressor molecules and their ligands can significantly reverse the immunosuppressive state in septic animal models or patients. In order to provide a reference for the monitoring and treatment of sepsis immune dysfunction, this article mainly summarizes the new findings on the role of those co-suppressor molecules in sepsis immune dysfunction in recent years.

13.
Chinese Pediatric Emergency Medicine ; (12): 139-143, 2020.
Article in Chinese | WPRIM | ID: wpr-864876

ABSTRACT

Biliary atresia is a serious congenital malformation that threatens the life of newborns.At present, the treatment of biliary atresia mainly relies on Kasai portoenterostomy which is also named hepatoportoenterostomy to correct the dysplastic biliary system.Cholangitis is the most common and intractable complication after Kasai portoenterostomy.The pathogenesis is still unidentified.Many factors including ascending infection of intestinal bacteria, abnormal development of intrahepatic bile duct, surgical injury, reflux of intestinal contentscan and so on can affect the occurrence and development of the disease.The initial time and frequency of cholangitis can affect the postoperative primary liver function, so it is especially important to diagnose and treat it timely.The diagnosis of post-Kasai cholangitis is lack of specificity, mainly based on clinical manifestations, biochemical abnormalities and surgical history.For intractable cholangitis should consider completing radioisotope hepatobiliary imaging, percutaneous cholangiography and single or double-balloon enteroscopy.The main focus of prevention and treatment lies in preoperative care, surgical improvement and postoperative care, as well as drug prevention during disease follow-up.

14.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1718-1721, 2020.
Article in Chinese | WPRIM | ID: wpr-864305

ABSTRACT

Objective:To investigate the changes of eosinophil(EOS) in feces of children with allergic enteritis caused by milk protein, and to provide basis for diagnosis and treatment of allergic enteritis.Methods:From July 2018 to June 2019, 70 children with milk protein allergic enteritis (allergic group), 50 children with non allergic common diarrhea (non-allergic group) and 50 children with healthy physical examination (healthy control group) were selected from Children′s Hospital of Nanjing Medical University.White blood cell(WBC), hemoglobin(Hb), blood platelet(PLT), EOS and the percentage of EOS(EOS%) of the 3 groups were counted by automatic hematology analyzer.The EOS in the feces of the 3 groups and the allergic group after treatment were counted by Gomori staining, and the correlation between EOS in the feces and milk protein allergic enteritis was analyzed.Results:For allergic group, EOS count in peripheral blood was(0.71±0.74)×10 9/L, EOS% was (7.56±5.96)%, and PLT was (382.96±85.98)×10 9/L.For non-allergic group, EOS was (0.31±0.18)×10 9/L, EOS% was (3.53±2.26)%, PLT was(315.12±69.81)×10 9/L.For healthy control group, EOS was(0.31±0.15)×10 9/L, EOS% was (3.66±1.65)%, and the PLT was(307.56±85.20)×10 9/L.The number of EOS, EOS% and PLT in allergic group were higher than those in non-allergic group and healthy control group ( F=13.606, 19.055, 16.074, all P<0.05). The number of EOS in feces of allergic group[(10.75 ±17.17)/ 50 fields at ×1 000]was significantly higher than that of non-allergic group[(1.16±3.09)/50 fields at ×1 000], the difference was statistically significant ( F=17.25, P<0.05), and there was no EOS in feces of healthy control group.After 4 weeks of avoidance of milk, EOS in feces decreased significantly in allergic group [(2.26±5.32)/50 fields at ×1 000], the difference was statistically significant ( t=5.822, P<0.05), while EOS in blood decreased [(0.56±0.47)×10 9/L], the difference was not statistically significant ( t=1.981, P>0.05). Conclusions:EOS in fecal of children with milk protein allergic enteritis increased obviously and decreased after treatment, is helpful to guide the clinical diagnosis and may become a new indicator of efficacy monitoring.

15.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1173-1176, 2020.
Article in Chinese | WPRIM | ID: wpr-864178

ABSTRACT

Objective:To investigate the age of onset of functional constipation in children and to explore its relationship with possible factors.Methods:Four hundred and sixteen children with functional constipation who were admitted to the Digestive Specialist Clinic of Nanjing Children′s Hospital from January 2017 to December 2018 were divided into 4 groups (Q1-Q4) according to the quartiles of the onset age.The gender, duration of symptoms and constipation of their parents of the 4 groups were analyzed.Results:Age of onset of 416 children was (1.58±1.64) years, the age of onset in the Q1 group was (0.27±0.19) years, the age of onset in the Q2 group was (0.82±0.17) years, the age of onset in the Q3 group was (1.64±0.32) years, and the age of onset in the Q4 group was (3.91±1.83) years.The constipation duration in 416 patients was (1.50±1.62) years; the constipation duration of Q1, Q2 and Q4 groups was (2.20±1.95) years, (1.33±1.48) years, (1.11±1.05) years and (1.35±1.66) years, respectively, and the group with the youngest age of onset (Q1) had the longest duration of constipation, which was statistically significant compared with the other three groups ( F=9.644, P<0.05). Of the 416 children, 190 cases (45.7%) were boys, 226 cases (54.3%) were girls; 54 boys (50.9%) and 52 girls (49.1%) in the Q1 group, 47 boys (39.8%) and 71 girls (60.2%) in the Q2 group, 39 boys (40.6%) and 57 girls (59.4%) in the Q3 group; 53 boys (55.2%) and 43 girls (44.8%) in the Q4 group; there were no significant differences in gender ( χ2=7.210, P>0.05). Among 416 children with FC, 196 cases (47.1%) had at least one of their parents with constipation symptoms, including 61 cases (57.5%) in Q1 group, and 66 cases (55.9%) in Q2 group, 34 cases(35.4%) in Q3 group, 35 cases (36.5%) in Q4 group.The 2 groups (Q1-Q2) with younger onset compared with the older onset children (Q3-Q4), their parents were more likely to have constipation symptoms, and the difference was statistically significant ( χ2=17.96, P<0.05). Conclusions:The age of onset of functional constipation in children is young, and younger functional constipation children are less likely to receive formal guidance treatment at an early stage; gender has no significant relationship with the age of onset; children with a younger onset, genetic factors are more meaningful to them.

16.
Chinese Journal of Emergency Medicine ; (12): 551-555, 2020.
Article in Chinese | WPRIM | ID: wpr-863789

ABSTRACT

Objective:To explore the role of bedside cardiopulmonary ultrasound in the evaluation of non-invasive positive pressure ventilation (NPPV) in patients with cardiaogenic pulmonary edema in emergency department.Methods:The clinical data and characteristics of bedside rapid cardiopulmonary ultrasound in patients withcardiaogenic pulmonary edema treated with NPPV in the emergency department were retrospectively analyzed. The following ultrasound parameters, including lung ultrasound score, the ratio of lung consolidation, diameter of inferior vena cava, left ventricular ejection fraction (LVEF), the mitral annular systolic displacement (MAPSE) and tricuspid annular systolic displacement (TAPSE), the peak Doppler velocities of the early diastolic mitral (E), the tissue velocity imaging of left ventricular and right ventricular (Sm), the tissue Doppler of the early diastolic velocity of the mitral annulus (e’), the average E/e’ ratio of left ventricular, systolic pulmonary artery pressure (SPAP) and the ratio of atrial fibrillation,, were determined. All of the parameters combined with clinical parameters were compared between the non-invasive ventilation success group and non-invasive ventilation failure group. Univariate and multivariate logistic regression analysis were used to screen out the risk factors by taking the failure of NPPV treatment as the dependent variable. The area under the receiver operating characteristic (ROC) curve was used to analyze the predictive value of the indicators above.Results:A total of 66 patients, included 44 (66.%) of NPPV success and 22 (33.3%) of NPPV failure revealed by bedside cardiopulmonary ultrasound. In comparison with the NPPV success group, the lung ultrasound score, ratio of lung consolidation, E/e’ of LV , SPAP, the ratio of right ventricular dysfunction, the ratio of atrial fibrillation and the level of Ccr were significantly evaluated, but the Sm of right ventricular and PaO2/FiO2 were significantly lower in the NPPV failure group (all P< 0.05). There were no differences in LVEF, MAPSE, TPASE, diameter of inferior vena cava and the Sm of left ventricular between groups (all P> 0.05). Multivariate logistic regression analysis showed that lung ultrasound score, E/e’ and SPAP were independent predictors of NPPV failure in patients with cardiaogenic pulmonary edema. The AUCs of lung ultrasound score, E/e’ of LV and SPAP for predicting NPPV failure was 0.802, 0.783 and 0.852, respectively. . Conclusions:The lung ultrasound score, right ventricular diastolic function and SPAP evaluated by bedside cardiopulmonary ultrasound could provide predictive values for the non-invasive positive ventilation failure in patients with cardiaogenic pulmonary edema.

17.
International Journal of Pediatrics ; (6): 321-325, 2020.
Article in Chinese | WPRIM | ID: wpr-862985

ABSTRACT

Chronic diarrhea in children can affect the absorption of multiple nutrients resulting in growth retardation and stunting.Many causes can lead to chronic diarrhea, and finding out the etiology is the premise of treatment.A new study classified chronic diarrhea in children as acquired diarrhea and congenital diarrheal disorders(CDDs). According to its pathophysiological characteristics, CDDs can be divided into defects of digestion, absorption and transport of nutrients or electrolytes, defects of intestinal epithelial enzymes and metabolic disorders, defects of absorptive enterocyte differentiation or polarization, defects of the enteroendocrine cells and defects of the immune system affecting the intestine.This review summarizes the advances in etiology of CDDs in children.

18.
Chinese Pediatric Emergency Medicine ; (12): 139-143, 2020.
Article in Chinese | WPRIM | ID: wpr-799684

ABSTRACT

Biliary atresia is a serious congenital malformation that threatens the life of newborns.At present, the treatment of biliary atresia mainly relies on Kasai portoenterostomy which is also named hepatoportoenterostomy to correct the dysplastic biliary system.Cholangitis is the most common and intractable complication after Kasai portoenterostomy.The pathogenesis is still unidentified.Many factors including ascending infection of intestinal bacteria, abnormal development of intrahepatic bile duct, surgical injury, reflux of intestinal contentscan and so on can affect the occurrence and development of the disease.The initial time and frequency of cholangitis can affect the postoperative primary liver function, so it is especially important to diagnose and treat it timely.The diagnosis of post-Kasai cholangitis is lack of specificity, mainly based on clinical manifestations, biochemical abnormalities and surgical history.For intractable cholangitis should consider completing radioisotope hepatobiliary imaging, percutaneous cholangiography and single or double-balloon enteroscopy.The main focus of prevention and treatment lies in preoperative care, surgical improvement and postoperative care, as well as drug prevention during disease follow-up.

19.
Chinese Journal of Medical Genetics ; (6): 1236-1240, 2020.
Article in Chinese | WPRIM | ID: wpr-879474

ABSTRACT

OBJECTIVE@#To explore the effect of rare synonymous variants of the ATP7B gene on the splicing of its precursor mRNA.@*METHODS@#A total of 248 rare synonymous variants with allelic frequency of T (p.L540L) and c.3888C>T (p.A1296A) variants could lead to abnormal splicing of the corresponding exons, resulting in complete skipping of exon 4 and 25% increase in the skipping of exon 18, respectively.@*CONCLUSION@#Synonymous variants may affect the splicing of precursor mRNA in various ways, particularly the destruction of ESE motif. This study confirmed that the c.1620C>T (p.L540L) and c.3888C>T (p.A1296A) variants can affect the mRNA splicing of the ATP7B gene, resulting in skipping of corresponding exons, which may provide a basis for genetic diagnosis and consultation of carriers.


Subject(s)
Humans , Alternative Splicing , Copper-Transporting ATPases/genetics , Enhancer Elements, Genetic , Exons , Gene Frequency , RNA, Messenger/genetics
20.
Chinese Journal of Applied Clinical Pediatrics ; (24): 505-508, 2018.
Article in Chinese | WPRIM | ID: wpr-696426

ABSTRACT

Objective To assess the association between-426C>T,-384A>G,+ 67G>A polymorphisms in Eotaxin gene and cow's milk protein allergy (CMPA) in infants.Methods One hundred and six patients with CMPA who were hospitalized at Children's Hospital Affiliated to Nanjing Medical University from July 2014 to July 2015 were selected as CMPA group,and 124 healthy infants chosen from Ninghai Road Community Health Service Centers at the same time were selected as healthy control group,and the serum levels of Eotaxin in 2 groups were measured by enzyme-linked immunosorbent assay (ELISA),polymerase chain reaction (PCR) and DNA direct sequencing technology were used to detect the genotypes for single nucleotide polymorphisms (SNPs) of-426C > T,-384A > G,and + 67G > A in Eotaxin gene.The association between the SNPs of-426C > T,-384A > G,and + 67G > A in Eotaxin gene and CMPA,the peripheral blood eosinophil counts,serum Eotaxin levels,and serum total immunoglobulin E levels were analyzed.Results For-426C > T,the frequency of each genotype of the CMPA group was CC,CT,TF (79.25%,19.81%,0.94%),while the frequency of each genotype of the healthy control group was CC,CT,TT(88.71%,8.06%,3.23%).There was a significant difference in the genotype frequency in-426C > T between the CMPA group and the healthy control group (x2 =7.83,P < 0.05).The individuals with heterozygous genotype(CT) had a 1.75-fold increased risk of developing CMPA compared with the individuals with wild-type genotype (CC) [odds ratio (OR) =2.75,95% confidence interval(CI):1.23-6.15,P < 0.05].For position + 67G > A,CMPA patients with a genotype including variant nucleotide had lower peripheral blood eosinophil counts [(0.48 ± 0.06) × 109/L] and serum Eotaxin levels [(157.67 ± 12.72) ng/L] than those with wild-type genotype [(0.85 ± 0.09) × 109/L,(286.96 ± 33.23) ng/L] (F =10.30,5.75,all P < 0.05).Conclusions Polymorphism of the Eotaxin gene (-426C > T) was associated with the susceptibility to CMPA.Polymorphism of the Eotaxin gene(+ 67G > A) was related to the blood eosinophil counts and the serum Eotaxin levels in children with CMPA.

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