MinYan Jiang, MinZhi Peng, ZhiKun Lu, YongXian Shao, ZongCai Liu, XiuZhen Li, YunTing Lin, Li Liu, Wen Zhang, YanNa Cai
{"title":"Features of liver injury in 138 Chinese patients with NICCD.","authors":"MinYan Jiang, MinZhi Peng, ZhiKun Lu, YongXian Shao, ZongCai Liu, XiuZhen Li, YunTing Lin, Li Liu, Wen Zhang, YanNa Cai","doi":"10.1515/jpem-2023-0026","DOIUrl":"10.1515/jpem-2023-0026","url":null,"abstract":"<p><strong>Objectives: </strong>To find biochemical and molecular markers can assist in identifying serious liver damage of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) patients.</p><p><strong>Methods: </strong>138 patients under 13 days to 1.1 year old diagnosed of NICCD in our center from 2004 to 2020. Base on the abnormal liver laboratory tests, we divided 138 patients into three groups: acute liver failure (ALF), liver dysfunction, and non-liver dysfunction groups, then compared their clinical, biochemical and, molecular data.</p><p><strong>Results: </strong>96 % of 138 patients had high levels of citrulline and high ratio of threonine to serine, which is the distinctive feature of plasma amino acid profile for NICCD. A total of 18.1 % of 138 patients had evidence of ALF who presented the most severity hepatic damage, 51.5 % had liver dysfunction, and the remaining 30.4 % presented mild clinical symptoms (non-liver dysfunction). In ALF group, the levels of citrulline, tyrosine, TBIL, ALP, and γ-GT was significantly elevated, and the level of ALB and Fisher ratio was pronounced low. Homozygous mutations of 1,638_1660dup, IVS6+5G.A, or IVS16ins3kb in <i>SLC25A13</i> gene were only found in ALF and liver dysfunction groups. Supportive treatment including medium-chain triglyceride supplemented diet and fresh frozen plasma could be life-saving and might reverse ALF.</p><p><strong>Conclusions: </strong>High level of citrulline, tyrosine, TBIL, ALP, γ-GT, and ammonia, low level of albumin, and low Fisher ratio were predictors to suggest severe liver damage in NICCD patients who may go on to develop fatal metabolic disorder. Early identification and proper therapy is particularly important for these patients.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"1154-1160"},"PeriodicalIF":1.4,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71523241","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sefer Kumandas, Esad Koklu, Hakan Gümüs, Selmin Koklu, Selim Kurtoglu, Musa Karakukcu, Mehmet Keskin
{"title":"Effect of Carbamezapine and Valproic Acid on Bone Mineral Density, IGF-I and IGFBP-3.","authors":"Sefer Kumandas, Esad Koklu, Hakan Gümüs, Selmin Koklu, Selim Kurtoglu, Musa Karakukcu, Mehmet Keskin","doi":"10.1515/jpem-2006-190411","DOIUrl":"10.1515/jpem-2006-190411","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"529-534"},"PeriodicalIF":1.3,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital Combined Pituitary Hormone Deficiency Attributable to a Novel PROP1 Mutation (467insT).","authors":"O Nose, K Tatsumi, Y Nakano, N Amino","doi":"10.1515/jpem-2006-190406","DOIUrl":"10.1515/jpem-2006-190406","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"491-498"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sefer Kumandas, Esad Koklu, Hakan Gümüs, Selmin Koklu, Selim Kurtoglu, Musa Karakukcu, Mehmet Keskin
{"title":"Effect of Carbamezapine and Valproic Acid on Bone Mineral Density, IGF-I and IGFBP-3.","authors":"Sefer Kumandas, Esad Koklu, Hakan Gümüs, Selmin Koklu, Selim Kurtoglu, Musa Karakukcu, Mehmet Keskin","doi":"10.1515/jpem-2006-190411","DOIUrl":"10.1515/jpem-2006-190411","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"529-534"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Margarita Smotkin-Tangorra, Henry Anhalt, Svetlana Ten
{"title":"Growth Hormone and Premature Atherosclerosis in Childhood Obesity.","authors":"Margarita Smotkin-Tangorra, Henry Anhalt, Svetlana Ten","doi":"10.1515/jpem-2006-190402","DOIUrl":"10.1515/jpem-2006-190402","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"455-466"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Milena Teles, Vinicius Nahime Brito, Ivo Jorges Prado Arnhold, Berenice Bilharinho Mendonca, Ana Claudia Latronico
{"title":"Preclinical Diagnosis of Testotoxicosis in a Boy with an Activating Mutation of the Luteinizing Hormone Receptor.","authors":"Milena Teles, Vinicius Nahime Brito, Ivo Jorges Prado Arnhold, Berenice Bilharinho Mendonca, Ana Claudia Latronico","doi":"10.1515/jpem-2006-190413","DOIUrl":"10.1515/jpem-2006-190413","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"541-544"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71428561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Diagnostic Value of Fine-Needle Aspiration Biopsy of Thyroid Nodules in Children and Adolescents.","authors":"H Willgerodt, E Keller, J Bennek, P Emmrich","doi":"10.1515/jpem-2006-190408","DOIUrl":"https://doi.org/10.1515/jpem-2006-190408","url":null,"abstract":"","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":"19 4","pages":"507-516"},"PeriodicalIF":1.4,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140923479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}