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Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort

World Journal of pediatrics 2016年第2期12卷 190-195页

作者： Yu-Jun Chen Jennifer Anne Wambach Kelcey DePass Daniel James Wegner Shao-Ke Chen Qun-Yuan Zhang Hillary Heins Francis Sessions Cole Aaron Hamvas Division of Neonatology Department of Pediatricsthe First Affi liated Hospital of Guangxi Medical UniversityNanningChina Division of Newborn Medicine Edward Mallinckrodt Department of PediatricsWashington University School of MedicineSt.LouisUSA Department of pediatrics Guangxi Maternal and Child Health HospitalNanningChina Division of Statistical Genomics Department of GeneticsWashington University School of MedicineSt.LouisUSA

Background: Rare mutations in surfactant-associatedgenes contribute to neonatal respiratory distress *** frequency of mutations in these genes in the Chinesepopulation is ***: We obtained blood spots from the GuangxiNeonatal Screening Center in Nanning, China thatincluded Han (n=443) and Zhuang (n=313) ethnic *** resequenced all exons of the surfactant proteins-B(SFTPB), -C (SFTPC), and the ATP-binding cassettemember A3 (ABCA3) genes and compared the frequenciesof 5 common and all rare ***: We found minor differences in thefrequencies of the common variants in the Han andZhuang cohorts. We did not find any rare mutations inSFTPB or SFTPC, but we found three ABCA3 mutationsin the Han [minor allele frequency (MAF)=0.003] and 7 inthe Zhuang (MAF=0.011) cohorts (P=0.10). The ABCA3mutations were unique to each cohort;five were *** collapsed carrier rate of rare ABCA3 mutations inthe Han and Zhuang populations combined was 1.3%,which is signifi cantly lower than that in the United States(P<0.001).Conclusions: The population-based frequency ofmutations in ABCA3 in south China newborns is signifi cantlylower than that in United States. The contribution of theserare ABCA3 mutations to disease burden in the south Chinapopulation is still unknown.

关键词： genetic epidemiology human population genetics neonatal respiratory distress syndrome pulmonary surfactant

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Different cutoff values of methacholine bronchial provocation test depending on age in children with asthma

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World Journal of pediatrics 2017年第5期13卷 439-445页

作者： Eun Lee Young-Ho Kim Seungbong Han Song-I Yang Young-Ho Jung Ju-Hee Seo Hyo-Bin Kim So Yeon Lee Ji-Won Kwon Soo-Jong Hong Department of pediatrics Chonnam National University HospitalGwangjuKorea Department of pediatrics Gyeongsang National University Changwon HospitalChangwonKorea Department of Applied Statistics Gachon UniversitySeongnamKorea Department of pediatrics Hallym University Sacred Heart HospitalAnyangKorea Department of pediatrics Bundang CHA Medical CenterCHA University School of MedicineSeongnamKorea Department of pediatrics Dankook University College of MedicineCheonanKorea Department of pediatrics Inje University Sanggye Paik HospitalSeoulKorea Department of pediatrics Childhood Asthma Atopy CenterResearch Center for Standardization of Allergic DiseasesAsan Medical CenterUniversity of Ulsan College of MedicineSeoulKorea Department of pediatrics Seoul National University Bundang HospitalSeongnamKorea

Background:Bronchial hyperresponsiveness (BHR) is a fundamental pathophysiological characteristic of *** several factors such as airway caliber can affect BHR,no study has established age-dependent cutoff values of BHR to methacholine for the diagnosis of asthma in *** investigated the cutoff values of the methacholine challenge test (MCT) in the diagnosis of asthma according to ***:A total of 2383 individuals aged from 6 to 15 years old were included in this *** using the five-breath technique were performed in 350 children with suspected asthma based on symptoms by pediatric allergists and in 2033 healthy children from a general population-based *** determined the provocative concentration of methacholine producing a 20% decrease in forced expiratory volume in 1 second from baseline (PC20).A modified Korean version of the International Study of Asthma and Allergies in Childhood questionnaire was used to distinguish asthmatics and healthy *** characteristic curve analysis was used to assess the cutoff value of PC20 for the diagnosis of ***:Cutoff values of methacholine PC20,which provided the best combination of diagnostic sensitivity and specificity,showed an increasing pattern with age:5.8,9.1,11.8,12.6,14.9,21.7,23.3,21.1,21.1,and 24.6 mg/mL at ages 6,7,8,9,10,11,12,13,14,and 15 years,***:The application of different cutoff values of methacholine PC20 depending on age might be a practical modification for the diagnosis of asthma in children and adolescents with asthmatic symptoms.

关键词： asthma bronchial hyperresponsiveness cutoff value receiver-operator characteristics

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From cradle to grave:seamless management of chronic pancreatitis but consider the special requests for children

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Hepatobiliary Surgery and Nutrition 2023年第4期12卷 585-589页

作者： Hiroyuki Isayama Shigeto Ishii Mitsuyoshi Suzuki Toshiaki Shimizu Department of Gastroenterology Graduate School of MedicineJuntendo UniversityTokyoJapan Department of pediatrics Juntendo University Graduate School of MedicineTokyoJapan

We have read the position paper by *** Freeman and the members of the Pancreas Nutrition Committee of the North American and the European Societies for Pediatric Gastroenterology,Hepatology,and Nutrition(NASPGHAN and ESPGHAN)(1).That paper focused on chronic pancreatitis(CP)in children and endoscopic procedures about which NASPGHAN published a second position paper(2).There are clinical practice guidelines for the management of CP in adults but not for CP in children(3).

关键词： Chronic pancreatitis pediatrics endoscopic retrograde cholangiopancreatography(ERCP) endoscopic ultrasound(EUS) pancreatic enzyme replacement therapy(PERT)

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(Phospho)creatine:the reserve and merry-go-round of brain energetics

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Neural Regeneration Research 2023年第2期18卷 327-328页

作者： Hong-Ru Chen Ton DeGrauw Chia-Yi Kuan Department of Neurosciences University of Virginia School of MedicineCharlottesvilleVAUSA Department of pediatrics Division of NeurologyEmory UniversityAtlantaGAUSA

Creatine transporter(CrT)-deficiency,the most common form of the cerebral creatine deficiency syndromes,causes cognition impairments and severe reduction of the brain creatine(Cr)and phosphocreatine(PCr)levels,and responds poorly to oral Cr supplement as a treatment *** ca uses of cognitive impairments in CrT-deficient children remain *** recently use gene-targeting to create a mouse model of CrT-deficiency to assess the impacts of Cr/PCr deficiency on brain energetics and stress-adaptation responses(Chen et al.,2021).

关键词： impairment cerebral creatine

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study to determine guidelines for pediatric colonoscopy

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World Journal of Gastroenterology 2017年第31期23卷 5773-5779页

作者： Shinichiro Yoshioka Hidetoshi Takedatsu Shuhei Fukunaga Kotaro Kuwaki Hiroshi Yamasaki RyosukeYamauchi Atsushi Mori Hiroshi Kawano Tadahiro Yanagi Tatsuki Mizuochi Kosuke Ushijima Keiichi Mitsuyama Osamu Tsuruta Takuji Torimura Division of Gastroenterology Department of Medicine Kurume University School of Medicine Department of Gastroenterology and Medicine Fukuoka University Faculty of Medicine Department of pediatrics and Child Health Kurume University school of Medicine

To investigated characteristics, diagnosis, bowel-cleansing preparation, sedation, and colonoscope length and diameter in Japanese pediatric patients receiving total colonoscopy. METHODSThe present study evaluated consecutive patients aged ≤ 15 years who had undergone their first colonoscopy in Kurume University between January 2007 and February 2015. Data were retrospectively analyzed. We identified 110 pediatric patients who had undergone colonoscopy that had reached the cecum, allowing the observation of the total colon. RESULTSHematochezia, abdominal pain, and diarrhea were the most common symptoms. For bowel-cleansing preparation, pediatric patients aged ≤ 12 years were treated with magnesium citrate, and patients aged 13-15 years were treated with polyethylene glycol 4000. For sedation, thiamylal with pentazocine, which has an analgesic effect, was used in patients aged ≤ 6 years, and midazolam with pentazocine was used in patients aged ≥ 7 years. Regarding the choice of endoscope, short and thin endoscopes were selected for younger patients, particularly patients aged ≤ 3 years. Positive diagnoses were made in 78 patients (70.9%). Inflammatory bowel disease (n = 49, 44.5%), including ulcerative colitis (n = 37, 33.6%) and Crohn’s disease (n = 12, 10.9%), was the most common diagnosis. CONCLUSIONColonoscopy offers a high diagnostic capability for pediatric patients with gastrointestinal symptoms. The selection of appropriate management the performance of colonoscopy is important in pediatric patients.

关键词： Pediatric endoscopy Sedation Bowel cleansing preparation Inflammatory bowel disease Complication

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Double trisomy 48,XXX,+18 with multiple dysmorphic features

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World Journal of pediatrics 2015年第1期11卷 83-88页

作者： Zi-Yan Jiang Xiao-Hui Wu Chao-Chun Zou Department of pediatrics Children's Hospital Zhejiang University School of Medicine and the Key Laboratory of Reproductive Genetics(Zhejiang University) Ministry of Education

Background:Chromosomal abnormality is a common cause of congenital anomalies,psychiatric disorders,and mental ***,the double trisomy 48,XXX,+18 is a rare chromosome ***:Case report and literature ***:A 7-hour-old girl presented to our unit because of poor response after *** presented with multiple dysmorphic features,including small for gestational age infant,flat nasal bridge,widely-spaced eyes,the left thumb deformities,flat facial profile,raised sternum,ventricular septal defect,the third lateral brain ventricle enlargement,and small *** case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+*** literature on 16 fetuses or infants with the 48,XXX,+18 were also ***:These data suggested that in patients with clinical features similar to trisomy 18,especially with anomalies of the ears and/or reproductive malformations,double trisomy(48,XXX,+18)should be considered and karyotyping should be performed although it is a rare disease.

关键词： 48,XXX,+18 chromosome abnormality double trisomy multiple dysmorphic features

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Applications of lung clearance index in monitoring children with cystic fibrosis

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World Journal of Clinical pediatrics 2019年第2期8卷 15-22页

作者： Andrew Fretzayas Konstantinos Douros Maria Moustaki Ioanna Loukou school of Medicine University of Athens Department of pediatrics Athens Medical Center Athens University Medical School Respiratory Unit Third Department of Pediatrics Athens University Medical School "Attikon" University Hospital Department of Cystic Fibrosis "Agia Sofia" Children’s Hospital

A sensitive, reproducible and feasible measure of lung function for monitoring the respiratory health is a prerequisite for the optimization of management of the patients with cystic fibrosis(CF). Spirometry has been considered the method of choice, although it is applicable only in children older than 6 years of age, as good cooperation is necessary for its proper performance. However, over the last15 years, scientific interest in gas dilution techniques and particularly in multiple breath wash out(MBW) method has been revived. The most commonly reported index of MBW is lung clearance index(LCI). The aim of this review is to present the most recent developments in the application of LCI as a monitoring index of respiratory status of CF patients. LCI is a sensitive and reproducible marker of ventilation inhomogeneity. It is more sensitive than spirometry and, unlike spirometry; it can be performed across the whole pediatric age range. Since it is dependent on body size, until at least the age of 6 years, the relative and not the absolute changes are more appropriate for providing clinically meaningful conclusion on ventilation inhomogeneity. Until now, MBW has been mainly used as a research tool. Based on the currently available data LCI cannot safely predict high-resolution computed tomography findings in children with CF, especially in infants. It can be used as an end-point measure for the assessment of beneficial effect of interventions. However, its utility as an outcome measure for the efficacy of therapeutic interventions seems to be dependent on the pathophysiologic mechanisms that underlie each intervention. It seems that more studies,especially longitudinal ones, are required in order to fully clarify the clinical usefulness of LCI, not only in the research setting, but also in every day practice of CF clinic.

关键词： Cystic fibrosis Respiratory health Lung clearance index Ventilation inhomogeneity

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The role of surfactant and non-invasive mechanical ventilation in early management of respiratory distress syndrome in premature infants

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World Journal of pediatrics 2014年第3期10卷 204-210页

作者： Narayan Prabhu Iyer Maroun Jean Mhanna Department of pediatrics Division of NeonatologyCase Western Reserve University School of MedicineMetroHealth Medical CenterClevelandOhio 44109USA

Background:Surfactant replacement therapy has been used for few decades for the treatment of respiratory distress syndrome(RDS)and has significantly improved morbidity and mortality in premature ***-invasive respiratory support has recently emerged as a strategy in the early management of *** this review,we discuss the different strategies of early management of *** sources:A literature search of PubMed database was conducted to review the *** quality of evidence of key clinical studies was graded according to a modified grading system of the international GRADE ***:Continuous positive airway pressure(CPAP)with selective surfactant is a safe alternative to routine intubation,surfactant and mechanical ventilation in preterm infants with spontaneous breathing,and such an approach has been associated with decreased risk of death and bronchopulmonary *** is a risk of pneumothorax when using a high pressure of CPAP(≥8 cm of H_(2)O),a high partial pressure of carbon dioxide(PCO_(2)>75 mm of Hg),and a high fraction of inspired oxygen(FiO_(2)>0.6)as a threshold for intubation while on ***:Not all preterm infants need surfactant treatment,and non-invasive respiratory support is a safe and effective approach.

关键词： non-invasive mechanical ventilation prematurity respiratory distress syndrome

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Effect of human milk and colostrum on Entamoeba histolytica

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World Journal of Gastroenterology 2004年第5期10卷 741-742页

作者： Ciler Akisu Umit Aksoy Hasan Cetin Sebnem Ustun Mete Akisu Department of Parasitology School of MedicineDokuz Eylul University35340InciraltiIzmirTurkey Department of pediatrics School of MedicineEge University35100BornovaIzmirTurkey Department of Gastroenterology School of MedicineEge University35100IzmirTurkey

AIM:Many defense factors of the mother's colostrum or milk protect infants from intestinal, respiratory and systemic infections. In the present study, we investigated the effect of colostrum and mature human milk on E. histolytica parasites in ***:Samples of human milk were collected from 5 healthy lactating *** medium with human milk at concentrations of 2%, 5% and 10% was ***:The lethal effect of E. histolytica on the medium supplemented with different concentrations of both colostrum and mature human milk was significant during the first 30min. We also detected that the results of colostrum and mature human milk were similar. No statistically significant differences were found between same concentrations of colostrum and mature human milk at the same ***:Colostrum and mature human milk have significant lethal effect on E. histolytica and protect against its infection in breast fed children.

关键词： Animals Colostrum Entamoeba histolytica development Entamoebiasis control Female Humans In Vitro Infant Milk, Human

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The preventive effect of vaccine prophylaxis on severe respiratory syncytial virus infection:A meta-analysis

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Virologica Sinica 2015年第5期30卷 371-378页

作者： Tongna Zhu Chuanlong Zhang Li Yu Jingxian Chen Huan Qiu Weiwei Lyu Shenghai Huang Department of Microbiology School of Basic MedicineAnhui Medical University Department of pediatrics the People's Hospital of Lu'an City Department of Pathology and Cell Biology Columbia University school of Life Science Anhui Medical University

Respiratory syncytial virus(RSV) is the key underlying cause of acute lower respiratory tract infection in infants; however, no licensed vaccine against RSV infection is currently available. This study was undertaken to assess the preventive effect of vaccine on RSV infection. In this metaanalysis, 1,792 published randomized clinical trials of RSV vaccines from Jan 1973 to Sep 2015 were examined. Among thirteen studies that met the inclusion criteria, eleven studies estimated the impact of RSV vaccines and four studies estimated the effect of adjuvants. The odds ratios(ORs) were 0.31(95% CI, 0.15–0.67) and 0.62(95% CI, 0.29–1.34), respectively. We found that RSV subunit vaccines can significantly reduce the incidence of RSV infection and that whether vaccination with adjuvant therapy was an effective strategy still remained to be studied. This analysis of the preventive effect of vaccines on RSV infection has direct applications for the prevention of RSV infections.

关键词： respiratory syncytial virus(RSV) vaccine prophylax

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