{"title":"[Holocarboxylase synthetase deficiency].","authors":"Y. Suzuki","doi":"10.32388/xwee64","DOIUrl":"https://doi.org/10.32388/xwee64","url":null,"abstract":"Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"9 1","pages":"816-7"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76188372","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}
K. Umeshita, M. Sakon, Y. Hasuike, T. Kanai, M. Gotoh, M. Monden, K. Wakasa, M. Sakurai
{"title":"[Well-differentiated hepatocellular carcinoma].","authors":"K. Umeshita, M. Sakon, Y. Hasuike, T. Kanai, M. Gotoh, M. Monden, K. Wakasa, M. Sakurai","doi":"10.32388/k8vnw0","DOIUrl":"https://doi.org/10.32388/k8vnw0","url":null,"abstract":"","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"17 1","pages":"470-2"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78717363","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":"[Immunodeficiency with hyper-IgM].","authors":"S. Sugai","doi":"10.32388/adqlzo","DOIUrl":"https://doi.org/10.32388/adqlzo","url":null,"abstract":"Immunodeficiency caused by mutations in the gene encoding the CD40 ligand. It is characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"2006 1","pages":"210-2"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86980692","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":"[Niemann-Pick disease type C].","authors":"K. Ohno","doi":"10.32388/piszc5","DOIUrl":"https://doi.org/10.32388/piszc5","url":null,"abstract":"Childhood symptoms of NPC may be first noticed when a child starts going to school and concerns regarding a child’s behaviour are raised. As the disease progresses, children may experience developmental delays, challenges with motor skills (e.g. increased clumsiness and abnormal posturing) and a particular difficulty in making vertical eye movements. Other symptoms of NPC may include: an enlarged liver or spleen, challenges with swallowing, slurred speech, loss of muscle strength, seizures, breathing problems and gradual liver failure. Another particular symptom is episodes of falling with laughter called “gelastic cataplexy” due to a sudden loss of muscle tone.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"30 1","pages":"480-1"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90794177","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":"[Intrahepatic bile duct adenocarcinoma].","authors":"T. Terada, Y. Nakanuma","doi":"10.32388/qol6rl","DOIUrl":"https://doi.org/10.32388/qol6rl","url":null,"abstract":"An adenocarcinoma arising from the epithelium of the extrahepatic bile ducts. Signs and symptoms include abdominal pain, anorexia, jaundice, pruritus, nausea and vomiting, and weight loss.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"117 1","pages":"402-4"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81086562","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":"[Fucosidosis].","authors":"M. Akagi, K. Inui","doi":"10.32388/ri067q","DOIUrl":"https://doi.org/10.32388/ri067q","url":null,"abstract":"Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic Fabry's disease. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have spasticity, mental retardation, and retardation of growth in addition to angiokeratomas. We herein report three new cases of this rare syndrome.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"50 1","pages":"731-2"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90040376","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}
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