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.
Fundamento. El objetivo del presente trabajo es conocer las características epidemiológicas, el manejo diagnóstico y terapéutico, su seguimiento y la incidencia de diagnósticos alternativos en una muestra de pacientes diagnosticados de cólico renal en el Servicio de Urgencias de un Hospital de tercer nivel.Material y métodos. Estudio descriptivo retrospectivo de 182 pacientes seleccionados aleatoriamente que consultan por clínica compatible con cólico renal en un hospital de tercer nivel, valorando su manejo inicial, seguimiento al alta y diagnósticos alternativos.resultados. El 55,4% fueron varones, la edad media fue de 47,7 años y el 40% de los casos se produjeron en primavera. En todos los pacientes se realizó analítica urinaria (62,7% tira reactiva y 72% sedimento) apareciendo alteraciones en más del 70%. La función renal se deterioró en el 26,4 % de los casos, siempre de forma transitoria. La prueba de imagen realizada con más frecuencia fue la radiografía de abdomen (81,9%) seguida de la ecografía (25,8%). El tratamiento incluyó fluidoterapia en el 31,3% y el analgésico más usado fue el metamizol (61%) seguido del ketorolaco (44,5%). El 46,2% de los pacientes necesitó más de un analgésico. Un total de 24 pacientes precisaron ingreso hospitalario y 5 de ellos cirugía urgente. El 24,1% presentó recaídas en los seis meses posteriores. El 41,6% fue remitido al Servicio de Urología al alta. El 18,1% presentaron diagnósticos alternativos, siendo la pielonefritis aguda el más frecuente de ellos (55%).conclusiones. Hemos detectado una importante variación en el manejo diagnóstico y terapéutico de estos pacientes. El uso de guías clínicas debe permitirnos unificar el manejo del paciente con cólico renal tanto en urgencias como posteriormente. El alto porcentaje de diagnósticos alternativos nos obliga a descartar sistemáticamente patologías más graves.Palabras clave. Cólico renal. Urgencias. Diagnóstico. Tratamiento. Seguimiento. Diagnóstico diferencial. aBstractBackground. To evaluate the diagnostic and therapeutic management of patients with nephritic colic in a referral hospital, their monitoring and the incidence of alternative diagnoses.Methods. This is a retrospective review of 182 randomly selected patients who presented a clinical diagnosis compatible with nephritic colic in a referral hospital. In these cases initial treatment, monitoring and alternative diagnoses have been evaluated. results. Fifty-five point four percent of the patients were male, the mean age was 47.7 years and 40% of the cases were in spring. Urinalysis was carried out in every patient (62.7% dipstick and 72% urinary sediment); they were pathological in over 70%. In 26.4% of cases renal function deteriorated, always transiently. Abdominal radiography (81.9%) was the most frequently diagnostic test performed, followed by ultrasound (25.8%). Treatment included a serum therapy in 31.3%; metamizol (61%) was the most commonly used analgesic followed by ketorolac (44.5%). More than one non-steroidal anti-inflammatory was used by 46.2%. Hospit...
We can conclude that, in our work, the parameters that better correlates objective data with health-related quality of life of COPD patients are the age and the severity of the obstruction.
A 35-year-old non smoker man with no known history of chronic pulmonary disease, was treated at our hospital after accidental aspiration of gas-oil. He had developed an acute lipoid pneumonia in a few hours. Computed tomography of the chest showed a ground-glass pattern in middle lobe; given the immediate epidemiological precedent, it was possible to confirm a definitive diagnosis. One year later the patient is asymptomatic although small signs of acute process remain in the computed tomography.
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