PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is nonfunctioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term). Qeios · Definition, February 10, 2020
{"title":"[PPoma].","authors":"S. Ohkawa","doi":"10.32388/92pajd","DOIUrl":"https://doi.org/10.32388/92pajd","url":null,"abstract":"PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is nonfunctioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term). Qeios · Definition, February 10, 2020","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"111 1","pages":"355-7"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74537603","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}
Eosinophilic esophagitis (EoE) is a clinicopathologic condition of increasing recognition and prevalence. Because of elevated total IgE levels and high rates of concurrent allergic diseases compared with the general population, EoE appears to be an antigen-driven immunologic process that caused by allergens like food or aeroallergens. EoE is a disease that features dense intraepithelial infiltration by eosinophils which cause excessive mucosal immunologic reactions which cause several symptoms that mostly involve dysphagia. For establishment of the diagnosis, infiltration of eosinophils (≥ 20 eosinophils/HPF) should be identified in an esophageal mucosal biopsy specimen. In treatment of patients have a possibility of EoE, proton-pump inhibitors(PPIs) must be tried as first choice. Other proved therapeutic options include topical or systemic corticosteroids, chronic dietary elimination, and esophageal dilation, but local administration of glucocorticoids has recently been reported as useful therapy for EoE.
{"title":"[Eosinophilic esophagitis].","authors":"H. Kusunose, S. Ohara","doi":"10.32388/zf2eta","DOIUrl":"https://doi.org/10.32388/zf2eta","url":null,"abstract":"Eosinophilic esophagitis (EoE) is a clinicopathologic condition of increasing recognition and prevalence. Because of elevated total IgE levels and high rates of concurrent allergic diseases compared with the general population, EoE appears to be an antigen-driven immunologic process that caused by allergens like food or aeroallergens. EoE is a disease that features dense intraepithelial infiltration by eosinophils which cause excessive mucosal immunologic reactions which cause several symptoms that mostly involve dysphagia. For establishment of the diagnosis, infiltration of eosinophils (≥ 20 eosinophils/HPF) should be identified in an esophageal mucosal biopsy specimen. In treatment of patients have a possibility of EoE, proton-pump inhibitors(PPIs) must be tried as first choice. Other proved therapeutic options include topical or systemic corticosteroids, chronic dietary elimination, and esophageal dilation, but local administration of glucocorticoids has recently been reported as useful therapy for EoE.","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"8 1","pages":"1221-6"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74411246","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":"[Somatostatinoma].","authors":"Makoto Ueno","doi":"10.32388/mceo6e","DOIUrl":"https://doi.org/10.32388/mceo6e","url":null,"abstract":"","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"19 1","pages":"372-4"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74396749","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}
A course of leprechaunism is described in a 6-month-old girl who died of cachexia in the presence of generalized cytomegalia and myocardial metabolic derangement caused by cardiac arterial calcinosis. Proband sib aged 7 suffered from deaf-mutism and imbecility. There were multiple deformities of the face and body, skin hyperkeratosis with papillomatosis and melanoderma, hirsutism, pseudohermaphroditism, breast hyperplasia, normal serum glucose. Ovarian polycystosis and nephromegaly were detected at autopsy. Histologically, there appeared nesidioblastosis, Leydig's cells focal hyperplasia in the ovaries, cystic renal dysplasia calcinosis of cardiac arteries, those of mesentery of the small intestine, spleen, pancreas and thyroid gland. The final diagnosis was established on the basis of the whole complex of clinical and morphological signs.
{"title":"[Leprechaunism].","authors":"G. Koya","doi":"10.32388/ziia6z","DOIUrl":"https://doi.org/10.32388/ziia6z","url":null,"abstract":"A course of leprechaunism is described in a 6-month-old girl who died of cachexia in the presence of generalized cytomegalia and myocardial metabolic derangement caused by cardiac arterial calcinosis. Proband sib aged 7 suffered from deaf-mutism and imbecility. There were multiple deformities of the face and body, skin hyperkeratosis with papillomatosis and melanoderma, hirsutism, pseudohermaphroditism, breast hyperplasia, normal serum glucose. Ovarian polycystosis and nephromegaly were detected at autopsy. Histologically, there appeared nesidioblastosis, Leydig's cells focal hyperplasia in the ovaries, cystic renal dysplasia calcinosis of cardiac arteries, those of mesentery of the small intestine, spleen, pancreas and thyroid gland. The final diagnosis was established on the basis of the whole complex of clinical and morphological signs.","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"64 1","pages":"1168-9"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88925647","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":"[Carbamoyl phosphate synthetase I deficiency].","authors":"R. Hoshide","doi":"10.32388/lxn0ql","DOIUrl":"https://doi.org/10.32388/lxn0ql","url":null,"abstract":"","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"1 1","pages":"772-4"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76711535","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}
Gaucher disease is an inherited metabolic disease characterized by deficient activity of lysosomal enzyme, known as a glucocerebrosidase. Three clinical phenotype were documented depends on the onset of disease and neuronal involvement. Deficient activity of glucocerebrosidase results in progressive accumulation of glucocerebroside mainly in bone marrow derived macrophages. Diagnosis was made based on enzymatic activity in various tissue including WBC and fibroblasts. Molecular diagnosis was also possible. However, it is difficult to differentiate the three phenotypes. Although bone marrow transplantation and enzyme infusion therapy are both effective, the inherent problems limits their application. Gene therapy based on transfer of the therapeutic gene to hematopoietic stem cells were started in this year in USA.
{"title":"[Gaucher disease].","authors":"T. Ohashi","doi":"10.32388/0t76hu","DOIUrl":"https://doi.org/10.32388/0t76hu","url":null,"abstract":"Gaucher disease is an inherited metabolic disease characterized by deficient activity of lysosomal enzyme, known as a glucocerebrosidase. Three clinical phenotype were documented depends on the onset of disease and neuronal involvement. Deficient activity of glucocerebrosidase results in progressive accumulation of glucocerebroside mainly in bone marrow derived macrophages. Diagnosis was made based on enzymatic activity in various tissue including WBC and fibroblasts. Molecular diagnosis was also possible. However, it is difficult to differentiate the three phenotypes. Although bone marrow transplantation and enzyme infusion therapy are both effective, the inherent problems limits their application. Gene therapy based on transfer of the therapeutic gene to hematopoietic stem cells were started in this year in USA.","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"30 1","pages":"2943-6"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78926347","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":"[Hereditary renal hypouricemia].","authors":"T. Ohta, T. Sakano","doi":"10.32388/xejeub","DOIUrl":"https://doi.org/10.32388/xejeub","url":null,"abstract":"","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"46 1","pages":"368-71"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87764714","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}
Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.
{"title":"[Megacystis-megaureter syndrome].","authors":"N. Kawamura","doi":"10.32388/d67o6c","DOIUrl":"https://doi.org/10.32388/d67o6c","url":null,"abstract":"Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition.","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"188 1","pages":"1188-9"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75138238","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":"[Secondary amyloidosis].","authors":"S. Kito, E. Itoga, T. Ito, T. Shinoda, Y. Yaguchi","doi":"10.32388/ikfezf","DOIUrl":"https://doi.org/10.32388/ikfezf","url":null,"abstract":"","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"49 1","pages":"3170-8"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90161026","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":"[Tangier disease].","authors":"T. Suehiro, Y. Ikeda","doi":"10.32388/8jgfft","DOIUrl":"https://doi.org/10.32388/8jgfft","url":null,"abstract":"","PeriodicalId":19307,"journal":{"name":"Nihon rinsho. Japanese journal of clinical medicine","volume":"142 1","pages":"604-7"},"PeriodicalIF":0.0,"publicationDate":"2020-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80989884","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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