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1.
BMJ Case Rep ; 12(9)2019 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-31488451

RESUMO

Angioedema (AE) is caused by a wide range of diseases and pharmaceuticals; it can become life-threatening when located to the airways. Patients with deficiency or malfunction of complement C1 esterase inhibitor (hereditary or acquired) experience recurrent AE due to an accumulation of the vasoactive mediator bradykinin (BK). Complement C1 inhibitor normally decreases BK production, so a reduced function hereof causes increased levels. The diagnosis of hereditary or acquired AE can be difficult due to similarities to allergic reactions (swelling, abdominal pain, rash). We describe a 35-year-old man presenting with upper-airway AE progressing rapidly and promptly required cricothyroidotomy. Complement and autoantibody screening together with sequencing of SERPING1 were performed and gave the diagnosis of acquired complement C1 esterase inhibitor deficiency. The patient is unusual to have this disease before the age of 40 years. No associated comorbidities were found. It is important to know that antiallergic medication is not effective in BK-mediated AE.

2.
Lancet ; 394(10201): 868, 2019 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-31498100
3.
Acta Derm Venereol ; 2019 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-31453626

RESUMO

Swimmer's itch, or cercarial dermatitis, is a waterborne non-communicable skin condition caused by schistosome cercariae released by aquatic snails. Cercarial dermatitis appears worldwide, but may be caused by different trematode species. The itchy maculopapular rash develops on exposed areas of the skin and typically resolves within 1-3 weeks. Shedding of infective larvae from snails is temperature dependent, and high temperatures and sunshine increase the risk of encountering the parasite and becoming infected. The unusually warm spring and summer of 2018 led to an increasing number of reports of the condition in Denmark and established a collaboration between the Department of Dermatology and the Faculty of Health and Medical Sciences, Department of Veterinary and Animal Sciences. This study explored the clinical picture of the disease, and demonstrated the occurrence of infected fresh water snail species in selected Danish water bodies. In conclusion, a risk of swimmer's itch in Denmark was confirmed.

5.
J Am Acad Dermatol ; 2019 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-31374307

RESUMO

BACKGROUND: Porphyria cutanea tarda (PCT) is a rare hepatocutaneous disease whose prognosis is largely unknown. OBJECTIVES: To compare all-cause and cause-specific mortality between a nationwide cohort of patients with PCT and a matched population sample. METHODS: We included all Danish patients diagnosed with PCT from 1989-2012. Each patient was matched by age and gender to ten random population controls. We compared survival and cause-specific mortality between patients and controls and adjusted for confounding from alcohol-related diseases, hepatitis, hemochromatosis, HIV, diabetes, AMI, stroke, cancer, COPD, and cirrhosis. RESULTS: The 20-year survival was 42.9% (95% CI 36.9-48.7%) for patients with PCT compared to 60.5% (95% CI 58.6-62.4%) for matched controls. All-cause mortality hazard ratio (HR) was 1.80 (95% CI 1.56-2.07) before adjustment and 1.22 (95% CI 1.04-1.44) after adjustment. The cause-specific mortality was markedly increased for non-malignant gastrointestinal diseases (HR 5.32, 95% CI 2.71-10.43) and cancers of the gut (HR 2.05, 95% CI 1.24-3.39), liver/gallbladder (HR 11.24, 95% CI 4.46-28.29), and lungs (HR 2.17, 95% CI 1.41-3.33). LIMITATIONS: We had no data on lifestyle factors. CONCLUSIONS: Patients with PCT have increased mortality, primarily explained by an increased mortality from gastrointestinal diseases and from cancers of the gut, liver/gallbladder, and lungs.

6.
Clin Exp Immunol ; 2019 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-31397881

RESUMO

Acquired angioedema due to C1-inhibitor (C1INH) deficiency (AAE) is caused by secondary C1INH deficiency leading to bradykinin-mediated angioedema episodes. AAE typically presents in adulthood and is associated to B cell lymphoproliferation. Anti-C1INH autoantibodies (antiC1INHAbs) are detectable in a subset of AAE cases and considered a hallmark of the disease. When free antiC1INHAbs and malignant tumours are not detectable, diagnosis relies on the finding of low C1INH levels and/or function, lack of family history and SERPING1 mutations, age at onset and low or undetectable C1q levels, none of which is specific for AAE. We tested the diagnostic value of a novel ELISA for the detection of circulating complexes between C1INH and antiC1INHAbs (C1INH-antiC1INHAb) in the serum of twenty European AAE patients characterized on the basis of their complement levels and function. Free antiC1INHAbs were detected in 9/20 patients (6 of IgG class, 2 of IgM class and one simultaneously presenting IgG and IgM classes), whereas C1INH-antiC1INHAb complexes were found in 18/20 of the AAE cases, regardless of the presence or absence of detectable free anti-C1INHAbs. Of note, 9/20 patients showed negative free antiC1INHabs, but positive C1INH-antiC1INHAb complexes in their first measurement. In the cohort presented, IgM-class C1INH-antiC1INHAb are specifically and strongly associated to low C1q serum levels. Detection of C1INH-antiC1-INHAbs provides an added value for AAE diagnosis, especially in those cases in whom no free anti-C1INH antibodies are detected. The link between IgM-class C1INH-antiC1INHAb complexes and C1q consumption could have further implications for the development of autoimmune manifestations in AAE. This article is protected by copyright. All rights reserved.

7.
Acta Derm Venereol ; 2019 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-31304558
8.
Dermatology ; 235(4): 263-275, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31167185

RESUMO

Among angio-oedema patients, hereditary angio-oedema (HAE) should not be overlooked. Besides skin swellings, these patients might have very painful abdominal attacks and potentially life-threatening angio-oedema of the upper airway. They will not respond to traditional anti-allergic therapy with antihistamines, corticosteroids, and adrenaline, and instead need specific drugs targeting the kallikrein-kinin pathway. Classically, patients with HAE have a quantitative or qualitative deficiency of the C1 inhibitor (C1INH) due to different mutations in SERPING1, although a new subtype with normal C1INH has been recognised more recently. This latter variant is diagnosed based on clinical features, family history, or molecular genetic testing for mutations in F12, ANGPT1,or PLG.The diagnosis of HAE is often delayed due to a general unfamiliarity with this orphan disease. However, undiagnosed patients are at an increased risk of unnecessary surgical interventions or life-threatening laryngeal swellings. Within the last decade, new and effective therapies have been developed and launched for acute and prophylactic therapy. Even more drugs are under evaluation in clinical trials. It is therefore of utmost importance that patients with HAE are diagnosed as soon as possible and offered relevant therapy with orphan drugs to reduce morbidity, prevent mortality, and improve quality of life.

9.
Ugeskr Laeger ; 181(18)2019 Apr 29.
Artigo em Dinamarquês | MEDLINE | ID: mdl-31036144

RESUMO

In this review, the importance of correct diagnosis of glomuvenous malformations (GVM) is emphasised, and different treatment modalities are discussed. GVM are simple venous malformations located in the skin and subcutis, and GVM has a characteristic blue to reddish cobblestone-like appearance with not fully compressible elements, which can be associated with pain on palpation. Clinically, GVM differ from blue rubber bleb naevus syndrome and common/familial cutaneo-mucosal venous malforma-tions in appearance, compressibility and in having a normal D-dimer concentration.

10.
J Invest Dermatol ; 139(8): 1699-1710.e6, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30998984

RESUMO

Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults. Gene editing can be used to efficiently introduce frameshift mutations to inactivate mutant genes. This can be applied to counter the effect of dominantly inherited diseases such as epidermolytic ichthyosis. In this study, we used transcription activator-like effector nuclease technology, to disrupt disease-causing mutant KRT10 alleles in an ex vivo cellular approach, with the intent of developing a therapy for patients with epidermolytic ichthyosis. A transcription activator-like effector nuclease was designed to specifically target a region of KRT10, upstream of a premature termination codon known to induce a genetic knockout. This proved highly efficient at gene disruption in a patient-derived keratinocyte cell line. In addition, analysis for off-target effects indicated no promiscuous gene editing-mediated disruption. Reversion of the keratin intermediate filament fragility phenotype associated with epidermolytic ichthyosis was observed by the immunofluorescence analysis of correctly gene-edited single-cell clones. This was in concurrence with immunofluorescence and ultrastructure analysis of murine xenograft models. The efficiency of this approach was subsequently confirmed in primary patient keratinocytes. Our data demonstrate the feasibility of an ex vivo gene-editing therapy for more than 95.6% of dominant KRT10 mutations.

11.
Dermatol Online J ; 25(3)2019 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-30982307

RESUMO

Elastosis perforans serpiginosa (EPS) is a rare skin disease with elimination of connective tissue fibers from dermis to epidermis. The typical presentation shows hyperkeratotic red or skin-colored papules arranged in a circinate pattern. We present a 26-year-old woman with EPS known to have vascular Ehlers-Danlos syndrome.

12.
BMJ Open ; 9(3): e024555, 2019 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-30928934

RESUMO

INTRODUCTION: Chronic inflammatory diseases (CIDs) (Crohn's disease, ulcerative colitis, psoriasis, psoriatic arthritis, rheumatoid arthritis and multiple sclerosis) are diseases of the immune system that have some shared genetic and environmental predisposing factors, but still few studies have investigated the effects of lifestyle on disease risk of several CIDs. The primary aim of this prospective cohort study is to investigate the impact of fibre, red meat and processed meat on risk of late-onset CID, with the perspective that results of this study can contribute in supporting future diet recommendations for effective personalised prevention. METHODS AND ANALYSIS: The study will use data from 57 053 persons from the prospective Danish cohort study 'Diet, Cancer and Health' together with National Health Registry data. The follow-up period is from December 1993 to December 2018. Questionnaire data on diet and lifestyle were collected at entry to the Diet, Cancer and Health study. The outcome CID is defined as having a diagnosis of one of the CIDs registered in the National Patient Registry or, for multiple sclerosis, in the Danish Multiple Sclerosis Registry during follow-up and being treated with a drug used for the specific disease. The major outcome of the analyses will be to detect variability in risk of late onset of any CID and, if power allows, disease risk of late onset of each CID diagnosis between persons with different fibre and red meat, and processed meat intake. The outcome will be adjusted for age, sex, body mass index, physical activity, energy, alcohol, fermented dairy products, education, smoking status, hormone replacement therapy and comorbidity. ETHICS AND DISSEMINATION: The study is approved by the Danish Data Protection Agency (2012-58-0018). The core study is an open register-based cohort study. The study does not need approval from the Ethics committee or Institutional Review Board by Danish law. Study findings will be disseminated through peer-reviewed journals, patient associations and presentations at international conferences. TRIAL REGISTRATION NUMBER: NCT03456206; Post-results.

13.
Acta Derm Venereol ; 99(7): 709-710, 2019 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-30834453
14.
15.
BMJ Case Rep ; 12(3)2019 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-30837234

RESUMO

Hereditary angioedema (HAE) is a relapsing swelling disorder which can cause severe pain, affect quality of life and potentially be life threatening with involvement of the airways. We present a 34-year-old immigrant who suffered from very frequent and severe HAE attacks. The attacks often involved the face, mouth and the airways. She often went to the hospital for treatment, where the language barrier made the situation complicated. The traditional therapy for HAE was not successful treating this patient. In June 2017, off-label treatment with prophylactic subcutaneous complement C1-inhibitor concentrate was initiated. The treatment was very successful and the patient has not been hospitalised since. Treatment for HAE is nowadays under investigation, and many drugs are under development. Especially, medication which works prophylactically and is administered orally or subcutaneously is in the horizon.


Assuntos
Angioedemas Hereditários/tratamento farmacológico , Proteína Inibidora do Complemento C1/uso terapêutico , Inativadores do Complemento/uso terapêutico , Adulto , Angioedemas Hereditários/fisiopatologia , Proteína Inibidora do Complemento C1/farmacologia , Inativadores do Complemento/farmacologia , Feminino , Humanos , Uso Off-Label , Educação de Pacientes como Assunto , Qualidade de Vida , Autoadministração , Resultado do Tratamento
17.
Ugeskr Laeger ; 181(7)2019 Feb 11.
Artigo em Dinamarquês | MEDLINE | ID: mdl-30777589
18.
Ugeskr Laeger ; 181(6)2019 Feb 04.
Artigo em Dinamarquês | MEDLINE | ID: mdl-30729920

RESUMO

This case report describes three different cases of glomuvenous malformations, which is a rare, autosomal dominant inherited cutaneous venous disease. There is a broad variation in the clinical appearance of these lesions, from flat blue elements to raised purple element with cobblestone appearance. One of the patients in this report experienced intense pain in her lesions, but after surgical resection the pain resolved. All diagnoses were confirmed with biopsy. If in doubt of the diagnosis, biopsy of vascular lesions is important.

19.
Ugeskr Laeger ; 181(5)2019 Jan 28.
Artigo em Dinamarquês | MEDLINE | ID: mdl-30722815
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