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[The Wiskott-Aldrich syndrome]. 【Wiskott-Aldrich综合征】。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 2020-02-10 DOI: 10.32388/l63p28
B. Belohradsky, C. Griscelli, H. Fundenberg, W. Marget
{"title":"[The Wiskott-Aldrich syndrome].","authors":"B. Belohradsky, C. Griscelli, H. Fundenberg, W. Marget","doi":"10.32388/l63p28","DOIUrl":"https://doi.org/10.32388/l63p28","url":null,"abstract":"Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cell fragments involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising, bloody diarrhea, or episodes of prolonged bleeding following minor trauma. Microthrombocytopenia can also lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura or rashes of tiny red spots called petechiae. In some cases, the bleeding episodes can be life-threatening.","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"41 1","pages":"85-184"},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42071726","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}
引用次数: 10
[Atrial septal defect]. [房间隔缺损]。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 2020-02-07 DOI: 10.32388/ut85s2
E. Derra, F. Grosse-brockhoff, F. Loogen
{"title":"[Atrial septal defect].","authors":"E. Derra, F. Grosse-brockhoff, F. Loogen","doi":"10.32388/ut85s2","DOIUrl":"https://doi.org/10.32388/ut85s2","url":null,"abstract":"Atrial septal defects (ASDs) represent defects in the interatrial septum that allow left to right shunting. ASD is common, accounting for about 10–15% of congenital heart disease. The clinical consequences of an ASD are associated to the anatomic location of the defect, its size, and the presence or absence of other cardiac anomalies. ASDs are classified based on their anatomic location: primum ASD; secundum ASD; sinus venosus defect, in the wall between the left atrium and the superior vena cava or inferior vena cava; coronary sinus defect (unroofed coronary sinus defect) in the wall separating the coronary sinus from left atrium. Echocardiography is the first choice for the diagnosis of ASD. Magnetic resonance imaging can help to select cases with suspected associated defects such as partial anomalous pulmonary venous connection or patients in whom there are inconclusive echocardiographic findings. CT is one of the best methods for special types of ASD, such as coronary sinus defects or combined with ectopic pulmonary venous drainage. Surgical and transcatheter closure are the treatments for patients with indications.","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"22 1","pages":"211-67"},"PeriodicalIF":0.0,"publicationDate":"2020-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47524225","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}
引用次数: 0
[Herpes simplex virus infection]. [单纯疱疹病毒感染]。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 2020-02-02 DOI: 10.32388/kwuejr
K. Weisse
{"title":"[Herpes simplex virus infection].","authors":"K. Weisse","doi":"10.32388/kwuejr","DOIUrl":"https://doi.org/10.32388/kwuejr","url":null,"abstract":"","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"14 1","pages":"390-481"},"PeriodicalIF":0.0,"publicationDate":"2020-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46083346","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}
引用次数: 0
Generalized lipodystrophy. 广义脂肪代谢障碍。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 2020-02-02 DOI: 10.1007/springerreference_41211
M. Seip
{"title":"Generalized lipodystrophy.","authors":"M. Seip","doi":"10.1007/springerreference_41211","DOIUrl":"https://doi.org/10.1007/springerreference_41211","url":null,"abstract":"","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"31 1","pages":"59-95"},"PeriodicalIF":0.0,"publicationDate":"2020-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"52967265","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}
引用次数: 57
[Wiedemann-Beckwith syndrome]. (Wiedemann-Beckwith综合症)。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 1993-01-01
J Kunze, H R Wiedemann
{"title":"[Wiedemann-Beckwith syndrome].","authors":"J Kunze, H R Wiedemann","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"61 ","pages":"303-38"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19212733","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}
引用次数: 0
[Chronic hepatic porphyria (porphyria cutanea tarda)]. 慢性肝性卟啉症(皮肤卟啉症)。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 1993-01-01
E Köstler, M O Doss
{"title":"[Chronic hepatic porphyria (porphyria cutanea tarda)].","authors":"E Köstler, M O Doss","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"61 ","pages":"123-205"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18899432","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}
引用次数: 0
[Clinical aspects, genetics and immunology of leukocyte adhesion protein deficiencies]. 【白细胞粘附蛋白缺乏的临床、遗传学和免疫学】。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 1993-01-01
T Uhlig, B H Belohradsky
{"title":"[Clinical aspects, genetics and immunology of leukocyte adhesion protein deficiencies].","authors":"T Uhlig, B H Belohradsky","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"61 ","pages":"1-55"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18899431","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}
引用次数: 0
[Legionella infection]. (军团菌感染)。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 1993-01-01
G Ruckdeschel, W Ehret
{"title":"[Legionella infection].","authors":"G Ruckdeschel, W Ehret","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"61 ","pages":"207-302"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19212732","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}
引用次数: 0
[Etiology of numerical and structural aberrations of the X chromosome. A study with highly polymorphic DNA markers]. X染色体数量和结构畸变的病因学。一项高度多态性DNA标记的研究]。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 1993-01-01
I Lorda-Sanchez, A A Schinzel
{"title":"[Etiology of numerical and structural aberrations of the X chromosome. A study with highly polymorphic DNA markers].","authors":"I Lorda-Sanchez, A A Schinzel","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"61 ","pages":"57-121"},"PeriodicalIF":0.0,"publicationDate":"1993-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18899433","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}
引用次数: 0
[Hereditary pancreatitis]. 遗传性胰腺炎。
Ergebnisse der inneren Medizin und Kinderheilkunde Pub Date : 1992-01-01
H Tomsik, R Grün, E Wagner
{"title":"[Hereditary pancreatitis].","authors":"H Tomsik, R Grün, E Wagner","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75829,"journal":{"name":"Ergebnisse der inneren Medizin und Kinderheilkunde","volume":"60 ","pages":"1-64"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12750457","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}
引用次数: 0
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