Is YouTube a sufficient source of information on Sarcoidosis?

BACKGROUND: The internet is a common source of health information for patients and caregivers. To date, content and information quality of YouTube videos on sarcoidosis has not been studied. The aim of our study was to investigate the content and quality of information on sarcoidosis provided by YouTube videos. METHODS: Of the first 200 results under the search term "sarcoidosis," all English-language videos with content directed at patients were included. Two independent investigators assessed the content of the videos based on 25 predefined key features (content score with 0-25 points), as well as reliability and quality (HONCode score with 0-8 points, DISCERN score with 1-5 points). Misinformation contained in the videos was described qualitatively. RESULTS: The majority of the 85 included videos were from an academic or governmental source (n = 63, 74%), and median time since upload was 33 months (IQR 10-55). Median video duration was 8 min (IQR 3-13) and had a median of 2,044 views (IQR 504 - 13,203). Quality assessment suggested partially sufficient information: mean HONCode score was 4.4 (SD 0.9) with 91% of videos having a medium quality HONCode evaluation. Mean DISCERN score was 2.3 (SD 0.5). Video content was generally poor with a mean of 10.5 points (SD 0.6). Frequently absent key features included information on the course of disease (6%), presence of substantial geographical variation (7%), and importance of screening for extrapulmonary manifestations (11%). HONCode scores were higher in videos from academic or governmental sources (p = 0.003), particularly regarding "transparency of sponsorship" (p < 0.001). DISCERN and content scores did not differ by video category. CONCLUSIONS: Most YouTube videos present incomplete information reflected in a poor content score, especially regarding screening for extrapulmonary manifestations. Quality was partially sufficient with higher scores in videos from academic or governmental sources, but often missing references and citing specific evidence. Improving patient access to trustworthy and up to date information is needed.

How Informed Are German Patients with Pulmonary Sarcoidosis about Their Disease?

BACKGROUND: Sarcoidosis is a multisystemic disease with a heterogenous course of disease. Comprehensive information about the complexity and treatment indications is essential for improving patient knowledge and adhering to therapy. OBJECTIVES: The aim of our study was to investigate the level and resources of information in patients with sarcoidosis and to analyze differences in patient subgroups including age and gender. METHODS: We conducted a questionnaire-based online survey in Germany and three semi-structured focus group interviews. The interviews were evaluated independently by two investigators using a structured qualitative content analysis. RESULTS: A total of 402 completed questionnaires were analyzed, 65.8% of participants were women, and the mean age was 53 years. The majority of patients felt well informed about their disease in general (59.4%), but 40.6% were inadequately informed. The most relevant information gaps related to the future perspective (70.6%) as well as fatigue and diffuse pain (63.9%). Most patients received information from their treating pulmonologist (72.1%). 94% used the internet, especially homepages of patient support groups (75.2%). Male participants more often reported being well informed about their disease and were more satisfied with the information (p = 0.001). During the interviews, patients expressed their wish for more comprehensive information and highlighted the importance of psychological co-care as well as the future perspective. CONCLUSIONS: A relevant proportion of patients with sarcoidosis are inadequately informed about their own disease, particularly with regard to factors impeding quality of life such as fatigue. Efforts are needed to improve the level and quality of information.

Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report.

Our patient was a 37-year-old woman with Fabry disease (GLA p.R112H) with a medical history of recurrent headache, nausea, vomiting, vertigo, and tobacco use (20 cigarettes/day). Fabry disease was diagnosed in 2005 when she experienced proteinuria, preeclampsia, and hypertension (201/130 mm Hg) during pregnancy (delivered 50 cm, 3.4 kg healthy boy; GLA wild type [WT]). Enzyme replacement therapy was initiated in 2009. The patient enrolled in the phase 3 ATTRACT trial (ClinicalTrials.gov; NCT01218659) and started migalastat in May 2012 while taking hormonal contraceptives. Two years after initiating migalastat, the patient had proteinuria (2166 mg/24 h) without hypertension (131/68 mm Hg), which persisted (788 mg/24 h a month later). Kidney biopsy results were consistent with existing Fabry disease. A serum pregnancy test and ultrasound confirmed pregnancy (18 weeks' gestation). Migalastat and hormonal contraceptives were stopped; the patient continued to smoke. Fetal MRI was normal at ~29 weeks' gestation. In October 2014, at 37+ weeks' gestation, the patient delivered a 45-cm, 2.29-kg healthy girl (GLA WT). Excepting low birth weight, which may be related to the patient's smoking, pregnancy outcome was normal despite exposure to migalastat for 18 weeks. Migalastat therapy during pregnancy is not advised.

The Renal History of Fabry Disease.

In 1898 William Anderson and Johannes Fabry described the red-purple maculopapular skin lesions characteristic for Fabry disease and also mentioned the presence of proteinuria. Four decades later Maximiliaan Ruiter concluded that angiokeratoma corporis diffusum is the cutaneous manifestation of an inherited systemic internal disease. In 1947 autopsy findings of two cases who died from uraemia revealed sclerosis of glomeruli. At this time the presence of a thesaurismosis was also considered. The first renal needle biopsy in 1958 showed vacuolation and distension of the cells of the glomerular tufts and distal tubules suggestive of a storage disorder. The ability to concentrate the urine was also impaired in these patients. Sweely und Klionsky in 1963 demonstrated that the major storage component is a trihexoside. As of 1967 Roscoe Brady finally described the deficiency of the enzyme ceramidetrihexosidase/-galactosidase A characteristic in patients with Fabry disease.