Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

[This corrects the article DOI: 10.1371/journal.pone.0277767.].

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.

The lysosomal storage disorder Fabry disease is caused by deficient or absent activity of the GLA gene enzyme α-galactosidase A. In the present study we present the molecular and biochemical data of the Danish Fabry cohort and report 20 years' (2001-2020) experience in cascade genetic screening at the Danish National Fabry Disease Center. The Danish Fabry cohort consisted of 26 families, 18 index patients (9 males and 9 females, no available data for 8 index-patients) and 97 family members with a pathogenic GLA variant identified by cascade genetic testing (30 males and 67 females). Fourteen patients (5 males and 9 females; mean age of death 47.0 and 64.8 years respectively) died during follow-up. The completeness of the Fabry patient identification in the country has resulted in a cohort of balanced genotypes according to gender (twice number of females compared to males), indicating that the cohort was not biased by referral, and further resulted in earlier diagnosis of the disease by a lower age at diagnosis in family members compared to index-patients (mean age at diagnosis: index-patients 42.2 vs. family members 26.0 years). Six previously unreported disease-causing variants in the GLA gene were discovered. The nationwide screening and registration of Fabry disease families provide a unique possibility to establish a complete cohort of Fabry patients and to advance current knowledge of this inherited rare lysosomal storage disorder.

Screening with doppler ultrasound for carotid artery stenosis in patients with stroke or transient ischaemic attack.

INTRODUCTION: Carotid endarterectomy of symptomatic internal carotid artery stenosis in patients with stroke or transient ischaemic attack reduces the risk of recurrent stroke, particularly if performed within 2 weeks from the first event. We evaluated the efficiency of a screening programme based on Doppler ultrasound in patients hospitalized with stroke or transient ischaemic attack in the stroke centre at Rigshospitalet, Glostrup, Denmark, concerning timeliness of referral to the vascular surgeon and performance of carotid endarterectomy according to national recommendations. METHODS: Prospective study of a consecutive cohort of patients with transient ischaemic attack or stroke, referred for carotid Doppler ultrasound over a one-year period. RESULTS: We examined 1390 patients (1048 with stroke, 342 with transient ischaemic attack), 71% within 24 h and 93% within 4 days after admission. Carotid stenosis or occlusion was found in 171 patients (12·3%) and was hemisphere related in 78 patients (5·6%). Among these, 68 (87%) were referred to the vascular department, 94% within 4 days of admission. Carotid endarterectomy was performed in 16 patients, all within 14 days from admission, and was not declined in any patient due to procedural delay. CONCLUSIONS: In a major Danish stroke centre, the national recommended time limit of 4 days in patients with stroke or transient ischaemic attack for screening for carotid stenosis was met in almost all patients. No patients were excluded from surgery as a result of a time limit of 14 days from admission to surgery being exceeded. Of all patients screened, 1·2% underwent carotid endarterectomy.

Sternocostoclavicular Hyperostosis: An Ill-Recognized Disease.

Sternocostoclavicular hyperostosis (SCCH) is an ill-recognized, rarely diagnosed disease. Today, SCCH is widely considered part of the synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. SCCH develops over years with intermittent attacks of pain, swelling, and reddening of the sternocostoclavicular region. The disease causes progressive hyperostosis, fusion of the sternocostoclavicular joints, and soft tissue ossification. SCCH is chronic, non-malignant, and occurs predominantly bilaterally in middle-aged women. The incidence of the disease is unknown. We present a case of isolated SCCH, where chest radiographs showed a clear development of bilateral disease over the course of more than a decade. Whole-body bone scintigraphy was performed and was suggestive of SCCH. The diagnosis was established as late as 14 years from the onset of symptoms. During this period, the patient underwent several inconclusive examinations, resulting in a delay of diagnosis and in prolonged and aggravated symptoms. With this case report, we want to draw attention to SCCH and the importance of early diagnosis of the disease.