Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

Background: The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. Methods: A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or characteristics of HHT and ocular lesions were estimated using logistic regression adjusting for age and sex. Results: The ocular involvement was associated with being a carrier of a mutation for the ENG gene, that is, suffering from a type 1 HHT involvement (OR = 2.09; 95% CI [1.17–3.72]). p = 0.012). In contrast, patients with ocular lesions have less frequently mutated ACVRL1/ALK1 gene (OR = 0.52; 95% CI [0.30–3.88], p = 0.022). Conclusions: In conclusion, half of the patients with HHT in our study have ocular involvement. These eye lesions are associated with mutations in the ENG gene and ACVRL1/ALK1 gene. Thus, the ENG gene increases the risk of ocular lesions, while being a carrier of the mutated ACVRL1/ALK1 gene decreases said risk

Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT)

Background: There are very few studies about general quality of life parameters, standards for the description of health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is a cardinal symptom. Purpose: To assess the quality of life in a population of Spanish patients with HHT and compare it with the general population. Design and methods: Between January 1st 2005 and December 31st 2013, 187 adult patients diagnosed with HHT who were admitted to the HHT Unit of the Hospital Sierrallana, completed on their first visit, the EuroQol 5D-3L (five dimensions and three levels) quality of life descriptive test and the visual analog scale (VAS). The numerical social index value was also determined and the subjective effect of the nasal epistaxis on their quality of life was estimated classified as mild, moderate or severe. Results: Patients with HHT had greater problems than the general population in the five dimensions of the EuroQol 5D-3L, particularly considering pain/discomfort and anxiety/depression. In the VAS and the social index value, patients with HHT also scored lower than the general population, particularly older patients, males, and patients with HHT2. They also had values similar to those of populations with chronic illnesses. The subjective perception of the severity of epistaxis correlated strongly with the VAS and social index values. Conclusions: The quality of life of patients with HHT, estimated using the EuroQol 5D-3L scale, is affected across all dimensions. The scores are similar to those seen in cases of other chronic diseases. Older patients, males and the carriers of the ACVRL1 mutation generally have worse scores on these scales. The VAS and the social index value are index that correlate well with the severity of the clinical symptoms associated mainly with epistaxis

Sonographisch-kontrollierte mechanische Fragmentierung von Speichelsteinen (SonoFragmentation): Möglichkeiten und Grenzen einer neuen Technik

Anderton and Rowland's 8 wheel Atkinson box lorry - registration AYO361B - with Ark loads photographed 1975. For reference only

Tullio-Phänomen bei knöcherner Dehiszenz des oberen Bogenganges

Einleitung: Seltene Differentialdiagnosen bei Schwindel sind besonders dann wichtig, wenn sie eine therapeutische, wenn nicht gar chirurgische Konsequenz haben. Richtungsweisend für die Diagnose der Dehiszenz des oberen Bogenganges ist Drehschwindel bei Lärmexposition.Methoden: Wir beschreiben einen aktuellen Fall inklusive Videodokumentation und führten eine Literaturrecherche durch.Ergebnisse: Unter Lärmexposition z.B. im Sägewerk, war es bei einem Patienten zu rezidivierenden Schwindelattacken und Stürzen mit Frakturen gekommen. Bei der Untersuchung ließ sich unter Tonexposition links ein rotatorischer Nystagmus dokumentieren. Computertomographisch fand sich eine knöcherne Dehiszenz des oberen Bogenganges links. Therapeutische Möglichkeit ist die operative Deckung der Dehiszenz des betroffenen Bogenganges.Schlussfolgerungen: Bei einem Tullio-Phänomen ist die knöcherne Dehiszenz des oberen Bogenganges als Differentialdiagnose zu berücksichtigen und ggfs. computertomographisch auszuschließen