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The paper summarizes the clinical and follow-up data of percutaneous endoscopic gastrostomy (PEG) in three infants with chronic kidney disease to explore the safety and reliability of using PEG to improve the growth and development, and nutritional status. During follow-up, the weight and height of case 1 and 3 were obviously improved. Case 2 was followed up for 3 months, due to dying of cardiac arrest, and the infant's height and weight were not significantly improved. Serum albumin and prealbumin improved in 3 cases after PEG. No PEG-related infection occurred in 3 infants.
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Cerebral ischemia-reperfusion is a serious cerebrovascular disease with high morbidity and mortality. In recent years， reperfusion therapy based on thrombolysis and thrombectomy has been the main treatment method for patients with ischemic stroke. Numerous studies have shown that Chinese medicine saponins can effectively interfere with cerebral ischemia-reperfusion in a multi-target and multi-way manner， which have great potential on the treatment and prevention of cerebral ischemia-reperfusion. Taking China National Knowledge Infrastructure （CNKI） literature database and Wanfang literature database as the analysis sources， this paper used SPSS statistics to summarize the number of papers on the treatment of cerebral ischemia-reperfusion with Chinese medicine saponins and CiteSpace to conduct cluster analysis on the high-frequency keywords of the research， thereby expounding the research hotspots and research status of Chinese medicine saponins in the treatment of cerebral ischemia-reperfusion. Based on literature analysis and summary of animal experiments on the treatment of cerebral ischemia-reperfusion with Chinese medicine saponins in the past two decades， Chinese medicine saponins exerted effects by anti-inflammation， inhibition of oxidative stress， immune regulation， protection of nerve cells， inhibition of thrombosis， promotion of thrombolysis， protection of mitochondria， blood-brain barrier repairing， and other ways. The specific mechanism， therapeutic effect， and signaling pathway of each Chinese medicine saponin have been summarized in this study， which provide a theoretical basis for the in-depth research， new drug development， and clinical application of Chinese medicine saponins for the treatment of cerebral ischemia- reperfusion.
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Objective:To explore the active components, targets and mechanism of Guizhi Fuling Pills in the treatment of atherosclerosis (AS) based on network pharmacology and molecular docking technology.Methods:The active components and potential target information of Guizhi Fuling Pills in the treatment of AS was obtained using Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP), SwissTargetPrediction database and Genecards database. The target protein interaction network was constructed by using STRING database. The DAVID database was used to perform the Gene Ontology (GO) function and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment on potential targets. AutoDockVina and PyMOL software were used to verify the molecular docking of the main active components and key targets of Guizhi Fuling Pills.Results:A total of 74 active components, 239 potential targets and 4 710 AS-related disease targets were screened, and 182 intersection targets were obtained. A total of 484 biological process items, 132 molecular function items and 74 cellular component items were obtained by GO functional enrichment analysis, and 116 signal pathways were screened by KEGG enrichment analysis. The results of molecular docking suggested that the active components of Guizhi Fuling Pills have good binding activity to the key intersection targets.Conclusion:The active components of Guizhi Fuling Pills, such as sitosterol and paeoniflorin, mainly treat AS by regulating estrogen signal pathway and inflammatory signal pathway through TNF, VEGFA and other targets.
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ObjectiveTo analyze the functions， formulae， dosage forms， and methods of administration of the menstruation-regulating Chinese patent medicines included in the 2020 edition of the Chinese Pharmacopoeia， so as to provide reference for rational clinical use. MethodThe relevant Chinese patent medicines were recorded one by one， and the efficacy， dosage forms， methods of administration， and contraindications were counted， classified， and summarized. Further， we analyzed the Chinese medicines used in these Chinese patent medicines， identified the high-frequency Chinese medicines for menstrual regulation， and analyzed their natures， tastes， meridian tropism， and functions， aiming to guide the clinical use. ResultA total of 142 Chinese patient medicines for menstrual disorders were included in this study. They were classified into 12 categories according to their efficacy， mainly for regulating menstruation and blood， tonifying， activating blood， and eliminating mass. The representative Chinese patent medicines were Bazhen Yimu pills， Shaofu Zhuyu pills， Lyujiao Buxue granules， and Guizhi Fuling pills， which are in line with the principles of moving Qi and blood and regulating liver and spleen. Menstruation-regulating Chinese patents medicines are mostly in pills and capsules and are mainly taken with yellow wine or ginger decoction. Pregnancy was the contraindication with the highest frequency， followed by menstruation and dietary precautions. The high-frequency Chinese medicines mainly had the functions of tonifying， activating blood， resolving stasis， and clearing heat， with the top three being Angelicae Sinensis Radix， Paeoniae Radix Alba， and Chuanxiong Rhizoma. These medicines mainly had warm nature， sweet， bitter， and pungent tastes， and tropism to liver and spleen meridians. ConclusionThe treatment of menstrual disorders should focus on nourishing and activating blood， regulating Qi， tonifying kidney， supporting spleen， nourishing liver， and harmonizing stomach. The appropriate dosage form should be selected according to the patient's specific conditions. The medicinal guide and the method of administration should be selected on the basis of syndrome differentiation with attention to the contraindications. In summary， the Chinese patient medicines for menstrual regulation should be chosen based on the patient’s syndrome under guidance of the theory of traditional Chinese medicine.
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Objective:To evaluate the diagnostic performance of probe-based confocal laser endomicroscopy (pCLE) for indeterminate biliary strictures.Methods:Twelve patients with indeterminate biliary strictures who underwent pCLE and brush cytology from April 1, 2013 to December 30, 2016 were enrolled. Clinical data, the results of endoscopic retrograde cholangiopancreatography, pCLE examination and brush cytology were collected. Compared with post-operative pathology and follow-up over 12 months, sensitivity, specificity, positive predictive value(PPV), negative predictive value(NPV), and accuracy of pCLE and brush cytology of the diagnosis of malignant biliary strictures were analyzed.Results:The final diagnosis were 9 malignant and 3 benign. The sensitivity, specificity, PPV, NPV and accuracy of brush cytology were 3/9, 3/3, 3/3, 3/9 and 50.0%(6/12), respectively. The corresponding indicators of pCLE were 9/9, 2/3, 9/10, 2/2, and 91.7%(11/12), respectively.Conclusion:pCLE can be used for differential diagnosis of indeterminate biliary stricture.
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Objective:To design an intra-abdominal pressure measuring device applied to children on peritoneal dialysis (PD), and evaluate the feasibility and safety of the application of the device.Methods:The device consisted of a three-way stopcock with extension tubing, a three-way stopcock, a manometer tube, and a "Y" system peritoneal dialysis bag. The intraperitoneal pressure of different fill volumes was measured when a child was supine and relaxed in a horizontal position. The subjects of the study were children who received PD at the Pediatric Hospital of Fudan University from May 2019 to February 2020 and had PD dialysis age of>1 month. The children's demographic and clinical information were collected. During the measurement, the child’s complaints of pain, bloating, vital signs, and catheter-related contamination were recorded. Additionally, the occurrence of dialysis-related infections and complications during the hospitalization and outcomes of PD after three months of the measurement were tracked. A scatter plot and Pearson correlation test were used to explore the correlation between fill volumes and the intraperitoneal pressure.Results:Nine PD children were included in our study. The age of the children was (8.4±4.7) years old. The body surface area is (0.84±0.29) m 2. The intraperitoneal pressure was (12.6±1.9) cmH 2O at the fill volume of 1 000 ml/m 2 and (13.8±1.9) cmH 2O at the fill volume of 1 200 ml/m 2. The measurement was smoothly and safely taken without any case of contamination and dialysis-related infections during the hospitalization. After three months of the measurement, one child was transferred to temporary hemodialysis due to the aggravation of the umbilical hernia. Conclusions:The intraperitoneal pressure measuring device is feasible and safe to perform among children with PD. It can achieve non-invasive and continuous measurement of intra-abdominal pressure, and has guiding significance for the dialysis prescription of children with PD.
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Objective:To report two cases of post-transplantation lymphoproliferative disorders (PTLD) after kidney transplantation in children and review the literature, and to improve clinicians' understanding of PTLD in children.Methods:The clinical data of two children with PTLD admitted to the Children's Hospital of Fudan University were collected and analyzed. The PTLD-related literature of PubMed, Embase, Web of Science, Scopus, Cochrane Library, Wanfang, CNKI, Weipu Database and China Biomedical Literature Service System from the establishment of the database to January 2020 were collected for literature review. Multivariate logistic regression analysis method was used to analyze the influencing factors of prognostic in children with PTLD.Results:Both of the patients had negative Epstein-Barr virus (EBV) and Cytomegalovirus (CMV) before transplantation and anti-thymocyte immunoglobulin (ATG) were induced during transplantation. PTLD in case 1 and case 2 was diagnosed at 3 and 12 months after transplantation, respectively, with positive EBV and CMV serological reaction. The pathological diagnosis was monomorphic PTLD in case 1 and the case 2 was clinically considered as non-hodgkin lymphoma. They all received thrapies of immunosuppressive reduction combined with anti-CD20 monoclonal antibody and chemotherapy. PTLD was relieved and graft function was normal in 2 cases, while case 1 died two and half years after transplantation due to intracranial fungal infection. According to the analysis of 56 children (including 2 cases in this study) with PTLD from the literature review, the median time of PTLD from transplantation was 41.8 months. The initial involved organs were digestive tract [17 cases (30.4%)], respiratory system [8 cases (14.3%)], nervous system [7 cases (12.5%)] and pharyngeal lymph ring [7 cases (12.5%)], respectively. The main pathologic type of PTLD was monomorphic [34 cases (60.8%)]. Fifty-six cases were all positive in EBV serological reaction when PTLD was diagnosed. The treatment included immunosuppressive reduction combined with anti-CD20 monoclonal antibody and chemotherapy. Forty-eight cases of PTLD were relieved, while 8 cases lost graft function. Eleven cases died, including 3 cases due to infection and the other 8 cases due to PTLD. Multivariate logistic regression showed that monomorphic PTLD was a risk factor of death for PTLD children ( OR=21.616, 95% CI 1.007-464.107, P=0.049). Conclusions:PTLD in children with kidney transplantation is mostly associated with EBV infection, and the clinical manifestations are diverse. Monomorphic PTLD has a poor prognosis and high mortality.
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Objective To investigate current status of obesity and its relationship with hypertension in the elderly over 65 in Fujian. Methods From February 2018 to March 2020, cluster sampling method was used to select 11 203 elderly people over 65 years old from residential areas and villages with concentrated population, representative medical and economic development level in Fujian, such as Fuzhou, Xiamen, Zhangzhou, Quanzhou, Sanming, Putian, Nanping, Longyan and Ningde. All the selected individuals completed the questionnaires, and the basic data including height, weight, waist circumference, hip circumference and blood pressure were measured. Results Among the 11 203 elderly people over the age of 65 in 9 city, there were 5 224 males, 5 979 females, 4 545 patients aged 65-70 years, 3 239 patients aged 70-75 years, 2 200 patients aged 75-80 years, and 1219 patients aged > 80 years. There were 309 cases of low weight (2.76%), 4 971 cases of normal weight (44.37%), 4 362 cases of overweight (38.94%) and 1561 cases of obesity (13.93%). The obesity rate of females was significantly higher than that of males, and the height and overweight rates of males were significantly higher than that of females (P80 age group were lower than those of other age groups, and the detection rate of hypertension was significantly higher than that of other age groups (P<0.05). Conclusion Overweight is more common among the elderly over 65 in Fujian, and the prevalence of hypertension is relatively high among people with low BMI.
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Objective To analyze the incidence and death of stroke and its influencing factors, to explore the relationship between a stroke and its influencing factors, and to provide a scientific basis for the formulation and evaluation of health policies for the prevention and treatment of stroke. Methods Using a multi-stage stratified random cluster sampling method, a cross-sectional survey was conducted among 18 942 permanent residents over 40 years old . A unified questionnaire was used to analyze and understand the demographic characteristics of the research subjects. The statistical analysis was performed to compare the prevalence of stroke by gender, age, urban and rural areas, education, marital status and occupation. According to the results of single factor analysis, the Logistic model and artificial neural network model of influencing factors of stroke in the city were established. Results There were 522 stroke cases with a prevalence rate of 2.76%. There were 7 cases of death, accounting for 1.34%. The prevalence of stroke increased with the increase of age, and the trend test showed a statistical significance (P<0.01). The prevalence of stroke in primary school was higher than that in junior high school and above (P<0.01). The prevalence in rural areas was higher than that in urban areas (P<0.01). The prevalence in smokers and drinkers was higher than that in non-smokers and non-drinkers (P<0.01). Physical examination and laboratory examination showed that the waist circumference, BM, SBP, DBP, FPG, TC, TG and HDL of stroke patients were higher than those of non-stroke patients (P<0.01). The ankle brachial index and LDL value were significantly lower than those of non-stroke patients (P<0.01). Multivariate analysis showed that after adjusting gender, age, and urban and rural areas, smoking, drinking, waist length, high blood pressure measurement and high-density lipoprotein abnormality were positively correlated to stroke. Conclusion Smoking, drinking, waist length, high blood pressure and HDL were positive influencing factors of stroke. It is suggested that the intervention measures should be formulated according to the characteristics of different populations to effectively prevent and control strokes.
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Objective@#To evaluate the quality of life (QOL) of children with uremia who underwent renal replacement therapy (RRT) and identify the influencing factors for QOL in order to improve the QOL of children with uremia.@*Methods@#Children with ESRD who underwent dialysis or kidney transplantation (KT) at Children's Hospital of Fudan University between November 2016 and October 2017 were enrolled. The children and/or their parents completed and returned the Pediatric QOL Inventory Measurement Models (PedsQLTM) 4.0 questionnaire. Moreover, the clinical data of these children were collected. According to the way of RRT, children were divided into dialysis group and KT group. The differences of scores between two groups were compared. Multiple linear regression analysis was used to analyze the factors affecting the QOL of children.@*Results@#A total of 79 children undergoing RRT were enrolled. Among them, 48 cases in the dialysis group and 31 cases in the KT group. For children in KT group, the total PedsQL scores of child-self and parent-proxy assessment were higher than those in dialysis group (P<0.05). The total scores for the QOL of child-self and parent-proxy assessment were roughly the same for KT children (P>0.05). The total scores for the QOL of child-self and parent-proxy assessment were different for dialysis children (P=0.05). Short stature (height<3th percentile) and elevated left ventricular mass index (LVMI) were the independent influencing factors for the QOL of child-self and parent-proxy assessment in children undergoing KT, respectively (B=12.162, t=2.681, P<0.05; B=-0.240, t=-4.276, P<0.01).@*Conclusions@#QOL was higher in children undergoing KT than those on dialysis. Short stature and elevated LVMI were the independent influencing factors for QOL in children undergoing KT.
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Objective To investigate the effect of estrogen receptor-α gene polymorphism on osteoprotegerin(OPG)and calcaneus bone density in early and late postmenopausal women in Guangxi Zhuang nationality,in order to provide the theoretical basis for the early prevention and treatment of postmenopausal osteoporosis caused by estrogen receptor gene-induced osteoprotegerin reduction.Methods The broadband ultrasound attenuation in the right heel bone was measured by quantitative ultrasound bone densitometry in 621 postmenopausal women of Guangxi Zhuang nationality.Peripheral blood mononuclear cells and their DNA were extracted.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the estrogen receptor-α gene polymorphism.Serum osteoprotegerin level was determined by enzyme-linked immunosorbent assay.The differences of data distribution of OPG and calcaneus bone density were compared between five items of 3 genotypes and 2 alleles at the same age group of 40-,45-,50-,55-,60-,65-,70-,75-80 years.Results Women aged 60 years and over versus those aged 40-59 years showed that serum osteoprotegerin (OPG) and bone mineral density (BMD) were decreased (P ＜ 0.05),and had no significant difference among allele P,p,genotype Pp,pp,PP of ER-α Puv-Ⅱ polymorphism at the same age groups(P＞0.05).Women aged 60 years and over showed that ER-α Puv Ⅱ polymorphism of allele big P versus p,Pp,pp,PP in the same age groups had significantly decreased serum osteoprotegerin and bone mineral density.Women aged 65 years and over showed that ER-α Xba Ⅰ polymorphism of heterozygote Xx versus xx,XX,X,x in the same age groups had a significantly increased serum osteoprotegerin and bone mineral density(P＜0.05).Conclusions Women with big P allele of ER-a Pvu Ⅱ polymorphism have low serum osteoprotegerin level and a decreased bone mineral density,who are prone to postmenopausal osteoporosis.Thus,P allele of ER-α Pvu Ⅱ polymorphism is a causative agent.More attention should be paid to early prevention and treatment.But,women with the Xx heterozygote of ER-α Xba Ⅰ polymorphism have high serum osteoprotegerin level and an increased bone mineral density,who are not easy to suffer from postmenopausal osteoporosis.Therefore,Xx heterozygote of ER-α Xba Ⅰ polymorphism is a protective agent.The prevention and treatment of postmenopausal osteoporosis should be individualized based on estrogen receptor-α gene polymorphism.
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Objective@#To evaluate left ventricular (LV) dysfunction in patients with esophageal cancer (EC) during concurrent chemoradiotherapy (CCRT) using real-time three-dimensional speckle tracking echocardiography (3D-STE) and analyze its influence factors.@*Methods@#Thirty-one patients with EC who received CCRT were enrolled in the study.Conventional echocardiography and 3D-STE were performed pre-CCRT and during CCRT (radiotherapy dose reached 40Gy). Three-dimensional parameters including LV end-diastolic volume (EDV), end-systolic volume (ESV), stroke volume (SV), left ventricular ejection fraction (LVEF), global longitudinal strain (GLS) as well as global circumferential strain (GCS) were compared between pre-CCRT and during CCRT. The independent factors on left ventricular function parameters were analyzed.@*Results@#There was no change on LV diameters, LV volumes and LVEF during CCRT (all P>0.05), while LV diastolic function indexes were impaired compared with those of pre-CCRT, demonstrated by the decreased E/A, Em/Am, and increased E/Em(all P<0.05). 3DGLS was also significantly decreased during CCRT compared with that of pre-CCRT (P<0.05), but no significant difference was found in 3DGCS (P>0.05). Multivariate linear regression analysis manifested that cardiac V40(the percentage of cardiac volume as radiotherapy dose reached 40Gy) was an independent determinant of LV 3DGLS in patients with esophageal cancer during CCRT (P<0.05).@*Conclusions@#LV GLS provided by real-time 3D-STE could sensitively detect CCRT-induced myocardial injury. Cardiac V40 is independently associated with LV 3DGLS during CCRT, representing the impact of radiotherapy on the subclinical LV function change.
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The role of genetic factors in the modulation of serum bilirubin levels and the pathophysiology of neonatal hyperbilirubinemia is being increasingly recognized.Heme oxygenase-1 (HO-1) is the rate-limiting enzyme by which heme is catabolized to biliverdin and thence to bilirubin,with the simultaneous release of equimolar quantities of ferrous iron (Fe3 +) and carbon monoxide.Polymorphisms of the HO-1 gene promoter may modulate transcriptional activity,thereby augmenting or attenuating HO-1 expression with resultant modulation of the production of bilirubin.At present,some articles have elucidated the role of these polymorphisms in neonatal bilirubin production,but in different races,the results are different.
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Objective To investigate the relationship between serum vitamin A deficiency (vitam in A deficiency, VAD) and infectious diseases in children.MethodsAdopt the method of random sampling, sample of Cixi City prevention center with a total of 5000 children under the age of 6, according to the age groups were divided into 6 groups, the detection of vitamin A in children refers to the blood, separation of serum collected in dark conditions, with strict quality control, detection of serum vitamin A by fluorescence method (vitamin A the concentration of VA.).ResultsIn the two weeks, the incidence of VA in children with fever and acute respiratory infection (ARI) increased.ConclusionOur children's serum VA content is low, the lack of the high rate of children regardless of individuals or groups are prone to acute infection, VAD is the cause of children prone to acute infectious diseases is one of the important reasons.To strengthen health education, improve parents' feeding knowledge, proper oral Cod Liver Oil drops and reasonable feeding, is conducive to the healthy growth of children.
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Objective To investigate effects of physical exercise (PE) on object recognition memory in adult rats of postnatal isoflurane (Iso) exposures.Methods One hundred and ten postnatal 7-day SD rats (P7) were randomly divided into four groups: normal control group (Naive), Naive+PE group (received physical exercise in P21: a treadmill exercise 30min each day, 5 times/week, for 6 weeks), Iso group (three times of 2-hour Iso exposure in P7, P9, and P11), and Iso+PE group (received PE in P21 after postnatal Iso exposures). In P67, behavioral testing was conducted including open field and object recognition task (ORT), recording the time (Discrimination Ratios, DR) that rats spent on exploring each object, evaluating effects of PE on object recognition memory.Results There was no significant difference in influence of PE on open field testing in all of the groups (P>0.05). Compared with Naive, there was no group difference in DR (P>0.05) for all groups, but the DR of Iso male rats was significantly higher than that of Naive female rats in P67, with significant difference (P=0.034). Compared with non-PE groups, whether or not postnatal Iso exposures, the DR of PE male groups was significantly higher (compared with Naive and Iso group:P67,P=0.050,P=0.017; P95,P=0.037,P=0.019); in female rats, the DR for ISO+PE group was lower than that of Iso group in P67 (P=0.036), but the DR of Naive+PE group was higher than that of Naive group in P95 (P=0.004). Compared with male rats, the DR of non-PE female rats was significantly higher in P67 (vis. Naive and Iso group:P=0.022,P=0.011); but in P95, the DR of non-Iso female groups was significantly higher than that of male groups (vis. Naive and Naive+PE:P=0.008,P=0.017).Conclusions There is no obvious impact of postnatal Iso exposures on object recognition memory of adult rats. These Results also indicate that postnatal PE could improve object recognition memory of non-spatial learning in adult rats. In addition, exercise benefits have gender differences.
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Objective To summarize the clinical features of 9 cases with mutations in PKHD1 gene for a better understanding of its phenotype.Methods Clinical data of nine cases with mutations in PKHD1 gene were summarized from January 2011 to December 2016 in our center,including clinical manifestations,laboratory findings,imaging data and family investigation.Next generation sequencing was used to screen 4000 genes in case 1 to 4 and whole exons in case 5 to 9.Significant variants detected by next generation sequencing were confirmed by conventional Sanger sequencing.Segregation analysis was performed using parental DNA samples.Relevant literature was reviewed.Results Among these 9 cases,5 are male,4 are female.The average age of onset was 2.6 years old (ranging from 0.5-5.2 years).Renal ultrasound revealed that all 9 cases had cysts in bilateral kidney,7 cases with enlarged kidney,1 case with normal size kidney,1 case with normal size kidney,and 1 case with bilateral renal atrophy.Two cases with renal artery stenosis,1 case with focal narrowing in left main branch and 1 case with vesico-ureteral reflux were found.Among the 9 cases,3 cases had homozygous mutations,and 6 cases had compound heterozygous mutations,including 1 nonsense mutation,1 frameshift mutation and 15 missense mutations.There were 2 cases with 3 heterozygous mutations,2 c.5935C ＞ T mutations and 2 eases with C.5869G ＞ A mutations.A total of 10 new mutations were identified.Conclusion Patients with mutations in the PKHD1 gene had normal size kidney,or even atrophic kidney.Renal artery stenosis,vesicoureteral reflux and bronchial stenosis were all first reported in patients with mutations in PKHD1 gene.The novel mutations,c.274C ＞ T,c.9059T ＞ C,c.8996delG,c.281C ＞ T,c.10424T ＞ A,c.7092T ＞ G,c.4949T ＞ C,c.5869G ＞ A,c.6197A ＞ G and c.1877A ＞ G further expanded the mutation spectrum of PKHD1 gene.
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Objective@#To investigate the clinical and genetic character of Chinese children with the aarF domain containing kinase 4 (ADCK4)-associated glomerulopathy.@*Methods@#Applying next generation sequencing to detect possible gene mutation(renal disease associated monogene was pooled as one panel) in 69 children with steroid-resistant nephrotic syndrome (SRNS) or persistent proteinuria of unknown origin. Sanger sequencing was used to confirm the significant mutations found in the children and to validate these mutation sites in their patients. Using online software (PolyPhen2, SIFT, Mutation Taster) to predict whether the detected missense mutations were disease causing or not. Collecting and analyzing clinical data of children with ADCK4-associated glomerulopathy, which included onset age, clinical manifestation, and renal pathology.@*Results@#The ADCK4 gene mutation was detected in 8 children with a positive rate of 11.6% (8 out of 69), among which 3 patients carried homozygous c.748G>C mutation, 3 patients carried homologous c.737G>A mutation, 1 patient carried compound heterozygous mutation(c.748G>C and c.737G>A), and 1 patient carried compound heterologous mutation(c.551A>G and c.737G>A). Collectively, there were only 3 mutation sites found in total 8 patients, in which the mutation sites of c.748G>C and c.737G>A had high detection frequency in these 8 patients. These 3 mutation sites were all missense mutation which were predicted to be disease causing by online software and not reported before. The average onset age was 6.5 years (2 years-11.75 years). Four patients presented with SRNS and the other 4 presented with persistent proteinuria. All 8 patients had no extrarenal manifestation, renal biopsy revealed focal segmental glomerulosclerosis (FSGS) in most patients, among which 3 cases had gone to end-stage renal disease (ESRD) at disease onset, and 2 cases progressed to ESRD 2 and 5 years after onset respectively. Seven patients had received glucocorticoid and/or immunosuppressive drug while only one patient getting partial response. All 8 patients were treated with large amount of coenzyme Q10 (15 mg·kg-1·d-1) after definite diagnosis of ADCK4 mutation-some patients had acquired encouraging curative effect.@*Conclusions@#ADCK4-associated glomerulopathy is not rare especially in the children with SRNS. The onset age is relatively old and the extrarenal manifestation is less common. FSGS is a main pathology type. Patients usually have no response to immunosuppressive therapy, but may benefit from addition of large amount of coenzyme Q10. Some patients may only manifest with insidious proteinuria, causing the early diagnosis to be difficult, which deserves more attention. Three new missense mutations expand disease causing mutation repertoire of ADCK4 gene, among which the two sites of c.748G>C and c.737G>A may be mutation hotspot of ADCK4-associated glomerulopathy in Chinese population, and need further study.
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Objective@#To summarize the clinical manifestation and molecular characteristics of COQ6 mutation induced nephrotic syndrome, and to evaluate efficacy of CoQ10 therapy.@*Method@#Clinical data of the case with infantile nephrotic syndrome was summarized, including clinical manifestations, laboratory findings and family investigation. The patient received CoQ10 30 mg/(kg·d) therapy. Urine protein/creatinine ratio, serum albumin and creatinine were detected to assess the efficacy of the therapy.@*Result@#(1) The 10 months old boy was presented with nephrotic level proteinuria and hypoalbuminemia. Extra-renal manifestations included cardiovascular abnormality, motor and mental retardation and unilateral ptosis. The patient had no consanguinity. A novel homozygous p. R360W mutation in COQ6 gene was identified and confirmed by next-generation sequencing and Sanger sequencing, respectively. Family analysis showed that homozygous p. R360W mutation in COQ6 gene was inherited from his parents. Missense p. R360W mutation was damaging by prediction online PolyPhen and SIFT software. After 2 months of CoQ10 complementary therapy, the patient′s urine protein/creatinine ratio declined from 7.2 to 1.3, and decreased further to 0.01 mg/mg with normal albumin level and renal function within 3 months. Nephropathy remission was maintained and growth retardation improved significantly during the last follow-up. Nevertheless, the patient manifested with sensorineural deafness at the age of 2 years. (2) There were 6 different mutations in coenzyme Q10 biosynthesis monooxygenase 6 (COQ6) in 13 individuals from 7 families by homozygosity mapping in the whole world. Each mutation was linked to early-onset SRNS with sensorineural deafness. Renal biopsy revealed FSGS in 7 cases and DMS in 1 case. Other manifestations included ataxia, seizures, facial dysmorphism, nephrolithiasis and growth retardation. Four patients received CoQ10 supplementation and responded to the treatment.@*Conclusion@#Renal disease caused by recessive COQ6 gene mutation was nephrotic syndrome. The patient benefited from early CoQ10 complement and reached nephropathy remission.
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Objective To investigate effects of isoflurane anesthesia of different time interval on acute injury of brain function in neonatal rats with consistent total time of isoflurane anesthesia. Methods Seven-day neonatal Sprague-Dawley (SD) rats were randomly divided into normal control group (breathe the air), continuous anesthesia group (a single 6-hour exposure to 1.5% isoflurane), and intermittent anesthesia 1 day and 3 days groups (three times of 2-hour exposure to anesthesia with an interval of 1 day or 3 days), 12 rats in each group. The ratio of male to female was 5:7. They underwent the test of learning and memory in the radial arm maze (RAM) 21 days after birth, twice a day for 4 days. The number of entry into wrong arms, number of repeated errors, number of total arm entries, and time for completing the task were recorded for evaluation of effect of neonatal isoflurane on cognitive behavior in rats. Results ① Compared with normal control group, the percentage of number of errors > 3 in anesthesia of 3-day interval group was significantly decreased (33.3% vs. 46.9%, P 0 and total arm entries > 8 were significantly increased (33.3% vs. 18.8%, 27.1% vs. 13.5%, both P 3 between continuous anesthesia group, interval anesthesia 1-day group and the normal control group (44.8%, 44.8% vs. 46.9%), the percentages of number of repeated mistake > 0 and total arm entries > 8 in above three groups were slightly increased as compared with those of normal control group (27.1%, 22.9% vs. 18.8%, 20.8%, 21.9% vs. 13.5%, all P > 0.05). No statistical differences in completing the task among normal control group, continuous anesthesia group, interval anesthesia 1 day and 3 days groups were found (minutes: 1.32±0.91, 1.54±1.05, 1.46±0.86, 1.38±0.79, all P > 0.05). ② It was found by gender analysis that the percentages number of repeated errors > 0 and total arm entries > 8 were significantly lower in female rats than those in the male rats only in normal control group (5.0% vs. 28.6%, P 0 in continuous anesthesia group, interval anesthesia 1 day and 3 days groups (25.0%, 25.0%, 30.0% vs. 5.0%, P 8 in interval anesthesia 1 day and 3 days groups were significantly higher than that of normal control group (22.5%, 25.0% vs. 5.0%, both P < 0.05). No significant difference about the RAM task in male rats of all the four groups was found. Conclusions Different time interval of neonatal isoflurane exposure may develop certain degree of acute brain injury in rats, characterized by cognitive function. Prolongation of the interval time significantly enhanced long-term memory in rats. Multiple neonatal exposures to isoflurane were associated with greater cognitive impairment than a single exposure. In addition, isoflurane can significantly increase cognitional functional disorder in the female, not in the male rats.
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<p><b>OBJECTIVE</b>To study and summarize the etiology of children patients with chronic kidney disease (CKD) stage 2 to 5 seen in Children's Hospital of Fudan University from Jan. 2004 to Dec. 2013.</p><p><b>METHOD</b>By complying with the NKF-K/DOQI guidelines, we collected data of 264 cases of children patients with CKD stage 2-5 from Jan. 2004 to Dec. 2013 in the medical record system of Children's Hospital of Fudan University. And we retrospectively analyzed their age and CKD stage at first diagnosis, primary diseases, complications, etc.</p><p><b>RESULT</b>In the collected 264 cases, 52 cases (19.7%) were diagnosed at stage 2, 67 (25.4%) at stage 3, 52 (19.7%) at stage 4 and 93 (35.2%) at stage 5. For disease causes, 116 cases (43.9%) had congenital anomalies of the kidney and urinary tract (CAKUT), 61 cases (23.1%) had glomerular disease, 15 (5.7%) had hereditary kidney disease, 14 (5.3%) had other diseases and in 58 cases (22.0%) the causes of disease were unknown. In the group with age between 0 and 3.0 and 3.1 and 6.0 years, 57.1% (24 cases) and 60.0% (30 cases) had primary disease with CAKUT. In the group with age older than 10 years, 49.2% (30 cases) had primary disease with glomerular disease and 32.0% (32 cases) with unknown causes.</p><p><b>CONCLUSION</b>The major cause of CKD stage 2-5 in children in our hospital during the last ten years was CAKUT (43.9%), followed by glomerular disease (23.1%). The primary diseases of CKD were significantly different between the 2 age groups. CAKUT was more common in infants and preschool children while for adolescents, glomerular disease was the major cause.</p>