{"title":"[Hereditary haemorrhagic telangeiectasia].","authors":"Kumanan Rune Nanthan, Pernille Mathiesen Tørring, Jens Kjeldsen, Anette Dam Fialla, Bibi Lange, Troels Halfeld Nielsen, Mikkel Seremet Kofoed, Pernille Darre Haahr, Gitte Maria Jørgensen, Anette Drøhse Kjeldsen","doi":"10.61409/V11240781","DOIUrl":"10.61409/V11240781","url":null,"abstract":"<p><p>Hereditary haemorrhagic telangeiectasia (HHT) is an autosomal dominant hereditary disease, which affects 15.6/100,000 people in Denmark. In this review, we summarize the current Danish practice on screening, diagnosis, treatment and outpatient control of HHT patients, put an emphasis on the importance of proper screening and treatment of HHT-associated anaemia, and address the latest addition of biological treatment and advances in genetic sequencing to be utilized in HHT.</p>","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333919","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}
Hicham Laghmoch, Casper Grønlund, Louise Devantier, Bjarki Ditlev Djurhuus
{"title":"[Ménière's disease].","authors":"Hicham Laghmoch, Casper Grønlund, Louise Devantier, Bjarki Ditlev Djurhuus","doi":"10.61409/V07240462","DOIUrl":"10.61409/V07240462","url":null,"abstract":"<p><p>Ménière's disease (MD) is a disorder of the inner ear characterised by sudden vertigo attacks, unilateral sensorineural hearing loss, tinnitus, and aural fullness. The evidence supporting the diagnostic and treatment options is limited. The diagnosis should be based on criteria put forth by The Bárány Society. This review finds that the assessment of MD should rely on anamnesis and audiometry and can be supported by caloric testing, video head impulse test, and MRI. The limited evidence on available treatment options emphasises the critical role of social interventions in mitigating the psychosocial burden on patients.</p>","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333920","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}
Hanne Høxbroe Michaelsen, Joyce Horsmans Schultz, Andreas Lundh, Kristine Bjørndal
{"title":"[Sialadenitis].","authors":"Hanne Høxbroe Michaelsen, Joyce Horsmans Schultz, Andreas Lundh, Kristine Bjørndal","doi":"10.61409/V10240726","DOIUrl":"10.61409/V10240726","url":null,"abstract":"<p><p>Sialadenitis can present in an acute, chronic, or recurring manner. The causes are many and range from infections over obstructions to autoimmune and systemic diseases. Acute sialadenitis is caused by bacteria or viruses and can usually be treated by general practitioners, whereas patients with chronic or recurrent sialadenitis should be referred to an oto-rhino-laryngologist. This review covers the causes, diagnosis, and treatment of sialadenitis and presents a simple management algorithm for patients with suspected sialadenitis.</p>","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333934","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}
Torgerđ Hentze Eliesersdóttir, Martina Kuga, Nataliya Cheshenko, Agnieszka Monica Delekta
{"title":"[Exostosis at the inner ear canal].","authors":"Torgerđ Hentze Eliesersdóttir, Martina Kuga, Nataliya Cheshenko, Agnieszka Monica Delekta","doi":"10.61409/V08240513","DOIUrl":"10.61409/V08240513","url":null,"abstract":"<p><p>Exostosis of the IAC is a rare finding that may present with disabling symptoms of dizziness, hearing loss, and vestibular dysfunction. Exostosis can often be confused with IAC osteomas. The purpose of this case report is to discuss the presentation of a patient who presented with this finding. Diagnosis can be delayed and confused with other, more common pathologies. Imaging is fundamental in arriving at a correct diagnosis. Treatment of exostosis of the internal auditory canal depends on the severity of symptoms and the extent of cranial nerve compression.</p>","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333918","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}
Maria Ilsø, Gitte Maria Jørgensen, Mads Skjoldmose Nielsen
{"title":"Aortokaval fistel som sjælden komplikation til abdominalt aortaaneurisme.","authors":"Maria Ilsø, Gitte Maria Jørgensen, Mads Skjoldmose Nielsen","doi":"10.61409/V73023","DOIUrl":"10.61409/V73023","url":null,"abstract":"","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333935","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":"[Encephalitis or schizophrenia as a cause of cognitive decline].","authors":"Kristian Ørbæk Kirk, Christian Noe Weis","doi":"10.61409/V09240630","DOIUrl":"10.61409/V09240630","url":null,"abstract":"<p><p>In this case report, a young male patient presented with cognitive decline and behavioural changes, initially suspected as early schizophrenia. Impaired consciousness and mononuclear pleocytosis in CSF suggested an organic cause. Extensive testing was inconclusive, and treatment with corticosteroids and immunoglobulins improved symptoms but left cognitive deficits. Antipsychotics were ineffective, and no psychiatric illness was identified. The case highlights diagnostic challenges between neurology and psychiatry, suggesting possible neuroinflammation of unknown origin with a poor prognosis for a full recovery.</p>","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333917","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}
Emil Osman Thybo Karanfil, Emilie Stokholm Bækgaard, Jacqueline Møller Mistry, Jakob Mynster Blüdnikow, David Levarett Buck
{"title":"[Coma after low-dose mirtazapine].","authors":"Emil Osman Thybo Karanfil, Emilie Stokholm Bækgaard, Jacqueline Møller Mistry, Jakob Mynster Blüdnikow, David Levarett Buck","doi":"10.61409/V10240677","DOIUrl":"10.61409/V10240677","url":null,"abstract":"<p><p>In this case report, an 84-year-old male was admitted to the emergency department due to a decreased level of consciousness of unknown cause. Due to respiratory insufficiency, he was intubated and admitted to the ICU, where he was placed on mechanical ventilation. This corrected his hypercapnia but did not reverse the comatose condition. After extensive diagnostic testing, including urine toxicology, CT scans and a lumbar puncture, low-dose mirtazapine was revealed as the most likely cause of coma. Within 24 hours, he made a rapid and full recovery.</p>","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333911","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}
Andreas Glenthøj, Sarah Birgitte Ingemod Sand Carlsen, Marianne Hoffmann, Eva Kannik Haastrup, Lisbeth Pernille Andersen, Nina Toft, Brian Thomas Kornblit, Jesper Brix Petersen, Henrik Hasle, Marianne Rosenkrantz Segelcke Ifversen
{"title":"[CRISPR as a functional cure for hemoglobinopathies].","authors":"Andreas Glenthøj, Sarah Birgitte Ingemod Sand Carlsen, Marianne Hoffmann, Eva Kannik Haastrup, Lisbeth Pernille Andersen, Nina Toft, Brian Thomas Kornblit, Jesper Brix Petersen, Henrik Hasle, Marianne Rosenkrantz Segelcke Ifversen","doi":"10.61409/V12240888","DOIUrl":"10.61409/V12240888","url":null,"abstract":"<p><p>Severe haemoglobinopathies, including sickle cell disease and β-thalassaemia, represent significant global health burdens. CRISPR technology enables precise genetic editing of haematopoietic stem cells, with current therapies focused on boosting fetal haemoglobin production for a functional cure. This review finds that, while promising, ex vivo approaches require advanced facilities and substantial resources, limiting accessibility where the need is highest. Future development of in vivo methods may expand global access, addressing the urgent need for scalable and affordable treatments for these debilitating diseases.</p>","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333912","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":"Papulo-purpurisk gloves and socks-syndrom.","authors":"Thorbjørn Kabel Georgsen, Henrik Lorentzen","doi":"10.61409/V72098","DOIUrl":"10.61409/V72098","url":null,"abstract":"","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333916","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}
Rasmus O Bak, Mette Holm, Bjarne Møller, Jacob Giehm Mikkelsen, Trine H Mogensen
{"title":"[CRISPR/Cas gene editing of haematopoietic stem cells for curing primary immunodeficiency].","authors":"Rasmus O Bak, Mette Holm, Bjarne Møller, Jacob Giehm Mikkelsen, Trine H Mogensen","doi":"10.61409/V02250083","DOIUrl":"10.61409/V02250083","url":null,"abstract":"<p><p>Primary immunodeficiencies are rare monogenic inborn errors of immunity and can involve any combination of infection, autoimmunity, inflammation, and malignancy. While increased use of whole genome sequencing has vastly improved diagnosis, curative treatment options beyond haematopoietic stem cell transplantation are still lacking behind. In this review, we present and discuss the promising avenues of CRISPR/Cas gene editing of patient stem cells for curing these diseases through homology-directed repair, base- or prime editing and delivery by nanoparticles or viral derivatives. However, technological, regulatory, and economic challenges exist on the road to safe and broad implementation of this technology for personalized medicine in the clinic.</p>","PeriodicalId":23428,"journal":{"name":"Ugeskrift for laeger","volume":"187 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144333913","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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