Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi最新文献

{"title":"Gitelman's syndrome: report of one case.","authors":"Chan-Fai Chan,&nbsp;Shu-Chi Mu,&nbsp;Beng-Huat Lau,&nbsp;Chi-Jen Chang,&nbsp;Shin-Hua Lin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is primarily caused by inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive Na-Cl cotransporter (NCC) on the apical membrane of distal convoluted tubule. We report an eight-year-old girl with incidental hypokalemia prior to appendectomy. All biochemical studies were consistent with GS. Genetic analysis of the NCC gene revealed two novel mutations (N442K and IVS6-1G > A). With regular potassium and magnesium supplementation, the patient has remained normal growth and development during two years of follow-up.</p>","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40425833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microbial contamination of the Tzu-Chi Cord Blood Bank from 2005 to 2006.","authors":"Shu-Huey Chen,&nbsp;Ya-Jun Zheng,&nbsp;Shang-Hsien Yang,&nbsp;Kuo-Liang Yang,&nbsp;Ming-Hwang Shyr,&nbsp;Yu-Huai Ho","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>In total, 4502 units of cord blood (CB) were collected during a 2-year period from 2005 to 2006 by the Buddhist Tzu-Chi Stem Cells Center. The aim of this study was to analyze the incidence of microbial contamination and type of organism present in the cord blood. The clinical impact of microbial contamination on hematopoietic progenitor cell (HPC) grafts used for HPC transplantation is also discussed.</p><p><strong>Methods: </strong>First and second specimens were obtained for microbial assessment. These were collected in laboratory after cord blood collection and after cord blood unit manipulation, respectively. The samples were cultured and the results reviewed.</p><p><strong>Results: </strong>The overall incidence of microbiological contamination was 1.8% (82/4502). Three CB units were contaminated with two different organisms. Infectious organisms comprised 9.4% (8/85) of total isolated microbes. These infectious microorganisms were beta-Streptococci group B, Candida tropicalis and Staphylococcus aureus which were isolated in 6, 1 and 1 of CB units respectively. Escherichia coli, Bacteroides fragilis, Lactobacillus spp., Enterococcus, beta-Streptococcus Group B, Bacteroides valgatus, Corynebacterium spp., Klebsiella pneumonia and Peptococcus spp. were the most frequently encountered microorganisms. A higher contamination rate of the CB units was noted after vaginal delivery (2.16%) compared to caesarian section (0.85%) (p < 0.01).</p><p><strong>Conclusions: </strong>Extensive training in CB collection, good procedures and good protocols can decrease the rate of microbial contamination. The use of a closed collecting system and an ex utero method have the advantage of a lower contamination rate. In our cord blood bank, we use a closed system but an in utero method. Similar to other studies, most of microorganisms reported here as contaminants are non-pathogenic.</p>","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40538783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Asthma, infection and antibiotic.","authors":"Ping-Ing Lee","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40538782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child.","authors":"Chia-Ying Chang,&nbsp;Shuan-Pei Lin,&nbsp;Hsiang-Yu Lin,&nbsp;Chih-Kuang Chuang,&nbsp;Che-Sheng Ho,&nbsp;Chyong-Hsin Hsu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a newborn boy with the classic neonatal form of non-ketotic hyperglycinemia (NKH). He had a typical presentation of frequent hiccups and myoclonic movements since birth. Genetic analysis demonstrated a mutant allele with a single substitution at nucleotide 1111 of exon 8 (c. 1111 C > G) in the GLDC gene inherited from his mother, resulting in a histidine-to-aspartic acid change at amino acid position 371 (p. His371Asp mutation) in the gene product. The other allele of the GLDC gene was deleted, a mutation inherited from the father.</p>","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40425837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Notice: Similarity between two papers published in Acta Paediatrica Taiwanica and Journal of Japan Society for Premature and Newborn Medicine.","authors":"Jing-Long Huang","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40526449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of Mycoplasma pneumoniae in acute exacerbation of asthma in children.","authors":"Chun-Yen Ou,&nbsp;Yu-Fang Tseng,&nbsp;Yee-Hsuan Chiou,&nbsp;Bao-Re Nong,&nbsp;Yung-Feng Huang,&nbsp;Kai-Sheng Hsieh","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>The aim of this retrospective study was to test the connection between acute M. pneumoniae infection and the exacerbation of asthma. The clinical characteristics of Mycoplasma infection seen during emergent visits in asthmatic children were reviewed.</p><p><strong>Methods: </strong>We examined the cases of 316 asthma exacerbation patients aged from two to fourteen-years-old. They were divided into two groups according to their asthma history. One hundred and eighty-eight cases had evidence of a history of asthma (group 1) and 128 had only had their first asthma attack (group 2). The control group (group 3) was made up of 151 asthmatic children who had no acute exacerbation during the previous six months. In all three groups, we looked whether those children had acute M. pneumoniae infection or not. Acute M. pneumoniae infection was defined by positive results in serologic testing, with specific immunoglobulin M (IgM) antibody or with a > or = fourfold increase in IgG titer by the third week in the same children.</p><p><strong>Results: </strong>In group 1, acute M. pneumionae infection was found in 42 (23%) of the 188 children. In group 2, acute M. pneumoniae infection was proven in 57 (45%) of the 128 children. In the control group, 10 (7%) of the 151 children had M. pneumoniae infection. Twenty-three (54%) asthmatic children that presented with fever as the chief complaint were infected with M. pneumoniae, compared with 18 (12%) children without infection (p = 0.014). Twenty-nine (50%) children having their first asthma attack with fever were infected with M. pneumoniae, compared with 22 (32%) without infection (p = 0.009). In group 1, 17 (41%) children with M. pneumoniae infections and 28 (19%) children without M. pneumoniae infections presented with rale breathing sounds of the physical examination (p = 0.027). In group 2, 26 (46%) children with M. pneumoniae infections and 17 (24%) children without M. pneumoniae infections presented with rale breathing sounds (p = 0.019).</p><p><strong>Conclusions: </strong>We found that M. pneumoniae may play a role in asthmatic exacerbation among children, especially in those experiencing their first asthma attack. Moreover, among children with acute M. pneumoniae infection, the number was significantly increased of children having fever as the chief complaint and rales in auscultations compared with those without M. pneumoniae infection.</p>","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40425825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fetal alcohol spectrum disorder: report of one case.","authors":"Yi-Chen Huang,&nbsp;Hsin-Yu Lo,&nbsp;Wun-Tsong Chaou","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>One seven-year-old aboriginal boy visited our outpatient department for survey of study difficulty. The physical examination revealed microcephaly, broad depressed nasal bridge, thin upper lip, smooth philtrum, epicanthal folds and clinodactyly. He also had mild mental retardation and abnormal findings on brain MRI. His mother had confirmed daily alcoholic consumption (72 to 144 gm) during pregnancy. Besides the short stature and microcephaly, the patient had developmental delay in language. According to the history, clinical presentation, and the finding of brain imaging, this case matches the diagnosis of fetal alcohol spectrum disorder. It seems reasonable to consider that some cases with the idiopathic developmental delay may fit in this disorder, thus suggesting the importance of total abstinence from alcohol during pregnancy.</p>","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40425829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between umbilical cord blood insulin-like growth factors and anthropometry in term newborns.","authors":"Te-Yu Hung,&nbsp;Chin-Chuan Lin,&nbsp;Yea-Shwu Hwang,&nbsp;Shio-Jean Lin,&nbsp;Yen-Yin Chou,&nbsp;Wen-Hui Tsai","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Birth size is associated with long-term morbidity. Insulin-like growth factor (IGF) system is the most important endocrine factor influencing fetal growth. During rapid somatic growth, free-to-total IGF-I ratio is increased, resulting in higher IGF-I bioavailability. The purpose of this study was to investigate the association of free-to-total IGF-I ratios, IGF-II, and IGF-binding protein (IGFBP)-3 umbilical cord levels with anthropometric data of term neonates.</p><p><strong>Methods: </strong>Umbilical venous plasma samples were obtained from 95 term neonates and analyzed by enzyme-linked immunosorbent assay.</p><p><strong>Results: </strong>The large-for-gestational age (LGA) neonates had higher free IGF-I, total IGF-I, and IGFBP-3 levels than small-for-gestational age (SGA) neonates (P < 0.01, 0.001, 0.01, respectively) and higher total IGF-I and IGFBP-3 levels than appropriate-for-gestational age (AGA) neonates (P < 0.05, 0.01, respectively). The free-to-total IGF-I ratios and IGF-II levels were not different among SGA, AGA, and LGA neonates. Free IGF-I, total IGF-I, and IGFBP-3 levels were positively correlated with birth weight (r = 0.34, P < 0.001; r = 0.41, P < 0.001; r = 0.25, P < 0.05, respectively). Multiple linear regression analyses revealed that only total IGF-I levels was the independent predictive variable for birth weight.</p><p><strong>Conclusions: </strong>Our data suggest total IGF-I is the most important factor in the IGF system for determining fetal growth, at least near term gestation. Free-to-total IGF-I ratios may mostly be determined by total IGF-I. If birth size is associated with adult chronic metabolic diseases, total IGF-I may be involved in the pathogenesis.</p>","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40425832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current classification and status of primary immunodeficiency diseases in Taiwan.","authors":"Fang-Chen Liang,&nbsp;Yi-Chia Wei,&nbsp;Tang-Her Jiang,&nbsp;Meng-Ying Hsiehi,&nbsp;Yu-Chuan Wen,&nbsp;Yi-Shiou Chiou,&nbsp;Shu-Hua Wu,&nbsp;Li-Chen Chen,&nbsp;Jing-Long Huang,&nbsp;Wen-I Lee","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The incidence of primary immunodeficiency diseases (PIDD) in Taiwan is estimated at 2.17 per 100,000 live births. This is much lower than in Sweden, with 8.4 per 100,000 live births. Patients with critical combined T-cell and B-cell immunodeficiency (CID) seem to be under-diagnosed because of delayed referrals to a tertiary care center which is able to organize a cooperative transplantation team encompassing, at least, a pediatric hematologist and a immunologist for severe combined immunodeficiency (SCID) classified as \"pediatric emergency\". Moreover, there are rare reported cases of adult-onset (over 18-years-old) common variable immunodeficiency (CVID). These cases are possibly treated as autoimmune diseases, but not PIDD. To date around the world, 206 kinds of PIDD have been found and 110 causal genetic effects were identified. Although epidemiological studies show wide geographical and racial variations in the prevalence and distribution of PIDD, we believe in Taiwan that those patients with Mendelian susceptibility to mycobacteria disease (MSMD), belonging to \"congenital phagocyte defect\", are often treated as isolated refractory mycobacterial infections or chronic granulomatous disease. Also, \"diseases of innate immunity\" and \"autoimflammatory disorders\" are not yet identified. To manage patients with hemophagocytic lymphohisticytosis syndromes, one of \"disease of immune dysregulation, stem cell transplantation will be considered if there is poor response to chemotherapy. Patients with PIDD need better access to specialized clinical, laboratory and therapeutic resources.</p>","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40425827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Facial palsy in Kawasaki disease: report of two cases.","authors":"Sung-Tse Li,&nbsp;Nan-Chang Chiu,&nbsp;Che-Sheng Ho,&nbsp;Ming-Ren Chen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Facial palsy is an unusual complication associated with Kawasaki disease, with only a few published case reports. We report two patients with typical Kawasaki disease and facial palsy. Both had coronary artery aneurysms and were treated with intravenous immunoglobulin. The facial palsy resolved completely over the next several months in both patients. Coronary artery aneurysms resolved completely in one patient, and the other has not regressed to normal till now. The incidence of coronary artery aneurysm appears to be higher in the handful of reported cases of Kawasaki disease with facial palsy.</p>","PeriodicalId":7156,"journal":{"name":"Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40425834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}