Disease risk estimates in V30M variant transthyretin amyloidosis (A-ATTRv) from Mallorca.

BACKGROUND: Variant transthyretin amyloidosis (A-ATTRv) is an autosomal dominant disease caused by a range of TTR gene variants which entail great phenotypical heterogeneity and penetrance. In Majorca, the A-ATTRv caused by the V30M gene variant (A-ATTRV30M) is the most common. Since asymptomatic carriers are at risk of developing the disease, estimating age of onset is vital for proper management and follow-up. Thus, the aim of this study was to estimate age-related penetrance in ATTRV30M variant carriers from Majorca. METHODS: The disease risk among carriers from ATTRV30M families from Majorca was estimated by Non-parametric survival estimation. Factors potentially involved in the disease expression, namely gender and parent of origin were also analysed. RESULTS: A total of 48 heterozygous ATTRV30M families (147 affected patients and 123 were asymptomatic carriers) were included in the analysis. Penetrance progressively increased from 6% at 30 years to 75% at 90 years of age. In contrast to other European populations, we observe a similar risk for both males and females, and no difference of risk according to the parent of origin. CONCLUSIONS: In this first study assessing the age-related penetrance of ATTRV30M variant in Majorcan families, no effect of gender or parent of origin was observed. These findings will be helpful for improving management and follow-up of TTR variant carrier individuals.

Mannose-binding lectin exon 1 and promoter polymorphisms in tuberculosis disease in a Mediterranean area.

Mannose-binding lectin (MBL) is a serum protein that activates the complement and mediates phagocytosis. MBL levels and MBL2 genotype may impact upon host susceptibility to tuberculosis (TB) disease but evidence to date has been conflicting. MBL2 exon 1 and promoter genotyping and serum MBL concentrations were determined in 79 patients with active tuberculosis (58 pulmonary TB and 21 extrapulmonary or miliary TB) and 120 household healthy contacts (HHC) from a Mediterranean area (Majorca Island, Spain). Significantly higher serum MBL levels were found in patients with active tuberculosis than in HHC [median MBL concentrations 3430 ng mL(-1) (10-28 415) and 2600 ng mL(-1) (5-20 000) respectively, P = 0.002]. These higher MBL levels were mainly related to the most prevalent YA/YA wild-type diplotype. There was a strong correlation between MBL2 exon 1 and promoter genotype and MBL levels. The diplotype LYQA/HYPA was present in 12 out of 57 of the pulmonary TB cases but in none of the extrapulmonary TB patients. Diplotype LXPA/HYPA, producer of high levels of MBL, was significantly more frequent in HHC than in patients (16.8% vs. 6.4%, P = 0.031) suggesting a protective role against the development of TB disease that has not been previously found.

Tuberculosis cutánea en una zona de Mallorca (2003-2011) / Cutaneous tuberculosis in an area of Mallorca (2003-2011)

Antecedentes y objetivo. La tuberculosis constituye un importante problema sanitario, también en nuestro medio. Este estudio sepropone describir las características clínicas y epidemiológicas de la tuberculosis cutánea en nuestro medio. Pacientes y métodos. Estudio retrospectivo de los casos de tuberculosis cutánea diagnosticados de enero de 2003 a julio de 2011 en un hospital de Mallorca. Se registraron las formas clínicas, la metodología diagnóstica empleada, el tratamiento utilizado y la evolución clínica. Resultados. Se diagnosticaron 28 casos de tuberculosis con afectación cutánea (5,9% del total de tuberculosis), tuberculosis verdadera en 15 casos (14 escrofulodermas, un empiema necessitatis) y tubercúlides en el resto (8 casos de eritema indurado de Bazin y 5 de eritema nodoso). El foco de origen de los escrofulodermas fue ganglionar (10), óseo (4) y pleural (1); 13/28 pacientes eran originarios de otros continentes. La mayoría de los pacientes fueron tratados con 3-4 fármacos tuberculostáticos, evolucionando favorablemente. Conclusión. La tuberculosis cutánea no es infrecuente en nuestro medio. En las tuberculosis cutáneas verdaderas el cultivo es el método diagnóstico más rentable, mientras que en las tubercúlides generalmente la histología es la que proporciona el diagnóstico(AU)

Background and objective. Tuberculosis is an important health care problem, even in our setting. The objective of this study is to describe clinic and epidemiological features of cutaneous tuberculosis in our area. Patients and methods. A retrospective study was performed of all patients diagnosed of cutaneous tuberculosis in a hospital in Mallorca (Spain) from January 2003 to July 2011. The clinical forms, diagnostic methods used, treatment used and clinical course were recorded. Results. Twenty-eight cases of cutaneous tuberculosis were diagnosed (5.9% of the tuberculosis cases diagnosed in this period), 15 with classic cutaneous tuberculosis (14 scrofuloderma, 1 empyema necessitatis) and 13 patients with tuberculids (8 erythema induratum of Bazin disease and 5 erythema nodosum). Scrofulodermas came from lymph nodes in 10 of the patients, infected bone in 4 and pleural in one case; 13/28 patients came from other continents. Most of the patients were treatment with 3-4 tuberculostatic drugs, with favorable course. Conclusions. Cutaneous tuberculosis is not uncommon in our setting. In classic cutaneous tuberculosis culture is the gold standard diagnostic method while tuberculids are most commonly diagnosed by histology(AU)

[Cutaneous tuberculosis in an area of Mallorca (2003-2011)]. / Tuberculosis cutánea en una zona de Mallorca (2003-2011).

BACKGROUND AND OBJECTIVE: Tuberculosis is an important health care problem, even in our setting. The objective of this study is to describe clinic and epidemiological features of cutaneous tuberculosis in our area. PATIENTS AND METHODS: A retrospective study was performed of all patients diagnosed of cutaneous tuberculosis in a hospital in Mallorca (Spain) from January 2003 to July 2011. The clinical forms, diagnostic methods used, treatment used and clinical course were recorded. RESULTS: Twenty-eight cases of cutaneous tuberculosis were diagnosed (5.9% of the tuberculosis cases diagnosed in this period), 15 with classic cutaneous tuberculosis (14 scrofuloderma, 1 empyema necessitatis) and 13 patients with tuberculids (8 erythema induratum of Bazin disease and 5 erythema nodosum). Scrofulodermas came from lymph nodes in 10 of the patients, infected bone in 4 and pleural in one case; 13/28 patients came from other continents. Most of the patients were treatment with 3-4 tuberculostatic drugs, with favorable course. CONCLUSIONS: Cutaneous tuberculosis is not uncommon in our setting. In classic cutaneous tuberculosis culture is the gold standard diagnostic method while tuberculids are most commonly diagnosed by histology.