Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. ATTR amyloidosis can be sub-classified as wild-type ATTR (ATTR-wt) or as hereditary amyloidosis (ATTR-m); the prevalence of both types are likely underestimated. There are tools that can help us to study ATTR-m, as gnomAD database. Our primary aim was to estimate prevalence of variants, especially amyloidogenic variants, in the TTR gene using gnomAD database. We analysed TTR missense variants found in gnomAD. The variables studied were classified according to their clinical significance and according to the different populations. We found 71 missense variants in the TTR gene. Eleven variants were described as affects function variants (prevalence 1:230). The most frequently detected variant were c.424G>A (p.( Val142Ile)) (prevalence 1:332, MAF 0.00151) and c.148G>A (p.( Val50Met)) (prevalence 1:4924, MAF 0.000102), which represented 88% and 5%, respectively, of all affects function variants detected. Seventeen variants were classified as probably affects function, 29 as unknown variants, 4 as probably does not affect function and 10 as does not affect function variants. In terms of different populations, c.424G>A (p.( Val142Ile)) was especially prevalent in African population (MAF 0.01602; prevalence of 1:31) and c.148G>A (p.(Val50Met)) in European population (MAF 0.000179; prevalence of 1:2792). Prevalence of amyloidogenic variants in the general population was higher than prevalence heretofore described. This difference could be explained by incomplete penetrance of the disease, but other factors contributing to this fact, fundamentally the underdiagnosis of the disease.
REsUMEnRothia mucilaginosa (R. mucilaginosa), antiguamente denominada Stomatococcus mucilaginosus, es un coco Gram positivo capsulado, anaerobio facultativo, que forma parte de la flora orofaríngea normal y raramente se considera patógeno en pacientes inmunocompetentes, aunque puede producir, de forma poco habitual, infecciones graves como bacteriemias, endocarditis e infecciones respiratorias: neumonías, empiemas pleurales o sobreinfección de bronquiectasias.Presentamos el caso de un varón de 74 años diagnosticado de neumonía basal derecha de evolución tór-pida con mala respuesta inicial a diversos antibióticos, con empeoramiento clínico y radiológico y aparición de bronconeumonia bilateral con imágenes pseudonodulares. En 3 cultivos de esputos y en broncoaspirado se aisló R. mucilaginosa en cultivo puro. Finalmente fue tratado con Linezolid con buena respuesta clínica y normalización de la radiografía de tórax, comprobando la desaparición de R. mucilaginosa en posteriores cultivos de esputos.Existen pocos casos documentados de neumonía por R. mucilaginosa por lo que consideramos de interés presentar éste.Palabras clave. Rothia mucilaginosa. Bronconeumonía. Nódulos pulmonares. Linezolid. aBstRactRothia mucilaginosa (R. mucilaginosa), formerly named Stomatococcus mucilaginosus, is a facultatively anaerobic, encapsulated gram-positive coccus, which forms part of the normal oropharyngeal and is rarely considered to be a pathogen in immunocompetent patients, although it can produce, on rare occasions, serious infections like bacteremia, endocarditis and respiratory infections; such as pneumonia, pleural empyema or superinfection of bronchiectasis.We present the case of a 74-year-old male diagnosed with right basal pneumonia of torpid evolution with poor initial response to different antibiotics, with clinical and radiological worsening and the appearance of bilateral bronchopneumonia with pseudonodular images. R. mucilaginosa in pure culture was isolated in three sputum cultures and in bronchial suction. The patient was finally treated with Linezolid with good clinical response and normalisation of the thorax radiography, confirming the disappearance of R. mucilaginosa in subsequent sputum cultures.As there are few documented cases of pneumonia due to R. mucilaginosa, we believe that presenting this case will be of interest.
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