Kristin N Varhaug, Omar Hikmat, Laurence A Bindoff
{"title":"Mitochondrial disease caused by the m.3243A>G mutation","authors":"Kristin N Varhaug, Omar Hikmat, Laurence A Bindoff","doi":"10.4045/tidsskr.21.0729","DOIUrl":"https://doi.org/10.4045/tidsskr.21.0729","url":null,"abstract":"<p><p>Mitochondrial disease is among the most commonly occurring metabolic disorders and is relevant for many medical specialties. This clinical review article discusses one of the most common mutations causing mitochondrial disease, namely m.3243A>G. The mutation can lead to diabetes mellitus, hearing loss, cardiac and muscle involvement, encephalopathy and epilepsy, gastric and intestinal problems and visual impairment, frequently in combination. Better knowledge of mitochondrial disease caused by the m.3243A>G mutation would improve both the diagnosis and treatment of patients who may suffer from a serious and life-threatening disease.</p>","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40406395","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":"Logistic regression with more than two categories.","authors":"Stian Lydersen","doi":"10.4045/tidsskr.21.0786","DOIUrl":"https://doi.org/10.4045/tidsskr.21.0786","url":null,"abstract":"","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40407470","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}
Jakob Lillemoen Drivenes, Ramon Grimalt, Regina C Betz
{"title":"Uncombable hair.","authors":"Jakob Lillemoen Drivenes, Ramon Grimalt, Regina C Betz","doi":"10.4045/tidsskr.21.0888","DOIUrl":"https://doi.org/10.4045/tidsskr.21.0888","url":null,"abstract":"","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40407471","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":"Monkeypox in Norway.","authors":"Kristine Mørch, Frank O Pettersen","doi":"10.4045/tidsskr.22.0412","DOIUrl":"https://doi.org/10.4045/tidsskr.22.0412","url":null,"abstract":"","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40406399","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}
Åshild Marvik, Pavel Gudkov, Nils Grude, Hilde Skudal
{"title":"An immunosuppressed woman in her sixties with a high fever.","authors":"Åshild Marvik, Pavel Gudkov, Nils Grude, Hilde Skudal","doi":"10.4045/tidsskr.22.0060","DOIUrl":"https://doi.org/10.4045/tidsskr.22.0060","url":null,"abstract":"<p><p>Investigation of fever in immunosuppressed patients can be challenging. Rapid and correct microbiological test results are essential for steering the investigation in the right direction. Our patient was eventually diagnosed with a condition that was initially suspected, but the time to reach a laboratory-confirmed diagnosis was unusually long.</p>","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40407472","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":"Ikke færre fødetilbud, men flere!","authors":"Lisa Dahlbak Jacobsen","doi":"10.4045/tidsskr.22.0194","DOIUrl":"https://doi.org/10.4045/tidsskr.22.0194","url":null,"abstract":"","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40317129","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":"Vi må alle bidra til å isolere Russland.","authors":"Are Brean, Petter Gjersvik","doi":"10.4045/tidsskr.22.0190","DOIUrl":"https://doi.org/10.4045/tidsskr.22.0190","url":null,"abstract":"","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2022-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40317130","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":"Lyme borreliosis and antibiotic therapy.","authors":"Erlend Roaldsnes, Randi Eikeland, Dag Berild","doi":"10.4045/tidsskr.19.0222","DOIUrl":"https://doi.org/10.4045/tidsskr.19.0222","url":null,"abstract":"","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2019-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37138115","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 and phenotypes.","authors":"Eivind C Borna, Morten Melsom","doi":"10.4045/tidsskr.19.0215","DOIUrl":"https://doi.org/10.4045/tidsskr.19.0215","url":null,"abstract":"","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2019-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37138111","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":"When Saturn is in Virgo.","authors":"Are Brean","doi":"10.4045/tidsskr.19.07.01","DOIUrl":"https://doi.org/10.4045/tidsskr.19.07.01","url":null,"abstract":"","PeriodicalId":520817,"journal":{"name":"Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2019-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37140808","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}