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Annette Hansen

Publications and source records attributed to Annette Hansen.

6 recordsLinked to original sources

[Blau syndrome in monozygotic twins].

This case report describes Blau syndrome in monozygotic twins. The disease ran an identical course in both patients, starting with a maculopapulous exanthema at one year of age. Skin biopsies showed epithelioid cell granulomas with multinucleated giant cells. Shortly after arthritis and periarticular swelling developed and uveitis appeared at 8 years of age. Treatment consisted of prednisolone and methotrexate, and from 18 years of age of infliximab, with good effect. DNA analysis showed de novo R334W mutation in the CARD15 gene. The patients have now been followed for 19 years and are in good clinical condition.

Adolescent↗

Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation.

Blau syndrome is a hereditary granulomatous disease caused by mutations in the CARD15 gene that is diagnosed in children of young age with exanthema/erythema, arthritis/periarthritis and/or uveitis. We report two cases of Blau syndrome in Danish Caucasian monozygotic male twins, exhibiting a heterozygous de novo R334W mutation in codon 334 of CARD15. The patients were initially diagnosed as having sarcoidosis. In both twins, symptoms (exanthema, arthritis/periarthritis) started at 1 year of age, and were followed by uveitis at 7-10 years of age. There was no involvement of the lungs or other organs. An initial course of standard antituberculous treatment had no effect on the symptoms. Hydroxychloroquine and cyclosporine A were also ineffective, and the latter caused impaired renal function. Partial symptomatic relief was obtained with prednisolone and increased benefit was observed in combination with methotrexate. Subsequent introduction of the TNF-alpha inhibitor eternacept did not discernibly benefit the clinical condition, but was associated with recurrent infections. In contrast, a trial of infliximab therapy demonstrated clinical efficacy and eliminated all symptoms, restoring a high quality of life. At follow up at 20 years of age (after 2-5 years of infliximab treatment) the twins had an almost normal physical appearance and a normal psychomotoric development, indicating a favourable short-term prognosis of the disease. Blau syndrome has pathologic, clinical and therapeutic features in common with sarcoidosis, but rarely involves the lungs or other parenchymatous organs. In children, discrimination between early onset sarcoidosis and Blau syndrome should include a CARD15 mutation analysis.

Adult↗

Postpartum pelvic pain--the "pelvic joint syndrome": a follow-up study with special reference to diagnostic methods.

BACKGROUND: The etiology of pelvic joint syndrome (PJS) is not fully clarified. As a consequence, there is a lack of diagnostic methods to confirm the diagnosis, which today is mainly based on medical history. OBJECTIVE: The aim of this study was to examine women with PJS using various diagnostic methods. The hypothesis is that there are characteristics in this group of women that separate them from women who only suffer from pelvic pain during pregnancy and shortly after delivery, or healthy women. METHODS: Fifty-eight women participated in this follow-up study--twenty-one with PJS, 17 women who suffered from pelvic pain during pregnancy and shortly after delivery, and 20 controls with no history of pregnancy-induced pelvic pain. Clinical examination, gynecologic examination, psychological tests, spine X-ray, magnetic resonance imaging (MRI), blood samples, and urine dipsticks were performed. RESULTS: Clinical examination showed significant differences with regard to provocative tests and tenderness in the muscles and ligaments in the low back and the pelvis. Furthermore, psychological testing showed bad coping strategies when women with PJS were compared with those of the two control groups. However, no diagnostic method could explicitly differentiate between women with PJS and those of the two control groups. Thus, there was no significant difference in MRI, X-ray, blood or urine sample analysis. CONCLUSIONS: Women with PJS have positive provocative tests and ligament and muscular tenderness. Bad coping strategies might be an explanation why these women develop PJS.

Adult↗

L-ficolin is a pattern recognition molecule specific for acetyl groups.

L-ficolin and H-ficolin are molecules of the innate immune system. Upon recognition of a suitable target they activate the complement system. The ligand recognition structure of ficolins is contained within a fibrinogen-like domain. We examined the selectivity of the ficolins through inhibiting the binding to bacteria or to beads coupled with N-acetylglucosamine. The binding of L-ficolin to Streptococcus pneumoniae 11F and the beads was inhibited by N-acetylated sugars and not by non-acetylated sugars. However, it was also inhibited by other acetylated compounds. Based on this selectivity L-ficolin is not easily defined as a lectin. The binding of H-ficolin to Aerococcus viridans was not inhibited by any of the sugars or other compounds examined. Based on the selectivity of L-ficolin we developed a new purification procedure involving affinity chromatography on N-acetylcysteine-derivatized Sepharose. The column was loaded in the presence of EDTA and high salt, and L-ficolin was eluted by decreasing the salt concentration. Further purification was achieved by ion exchange chromatography.

Acetylation↗