ABSTRACT
Antecedentes y objetivo: La amiloidosis por transtiretina (ATTR) es una enfermedad rara que forma parte de las amiloidosis sistémicas, y es una enfermedad amenazante para la vida. Puede afectar a todos los órganos y sistemas, siendo la más frecuente la afectación neurológica y cardíaca. El objetivo de este estudio es detectar posibles casos de ATTR y realizar un estudio descriptivo de los mismos. Material y métodos: Estudio descriptivo unicéntrico realizado en un hospital de tercer nivel en el que se incluyen pacientes con sospecha de ATTR entre septiembre de 2016 y enero de 2020. Resultados: Se detectan 190 pacientes sospechosos de ATTR. En el estudio se incluyen 100 de ellos, así como 10 familiares de pacientes en los que se detecta ATTR en su variante genética. En total, se detecta ATTR variante genética en 7 individuos (3 con mutación presintomática de la enfermedad), 16 pacientes con ATTR asociada a la edad y 31 individuos con amiloidosis cardíaca no filiada con las pruebas realizadas, lo que confirma la presencia de esta enfermedad en áreas no endémicas. Conclusiones: La ATTR es una enfermedad que se ha de tener en cuenta en el diagnóstico diferencial de pacientes que presentan insuficiencia cardíaca con FEVI preservada, principalmente si se asocia a síntomas neurológicos (AU)
Background and objective: Transthyretin amyloidosis (ATTR) is a rare disease that is part of systemic amyloidosis and is life-threatening. It can affect all organs and systems, the most frequent being neurological and cardiac involvement. This study aims to detect possible ATTR cases and carry out a descriptive study of them. Material and methods: Descriptive single-centre study carried out in a tertiary hospital, which included patients with suspected ATTR between September 2016 and January 2020. Results: A total of 190 suspected ATTR patients were detected. The study includes 100 of these patients, as well as 10 relatives of patients in whom ATTR was detected in its genetic variant (ATTRv). In total, ATTRv was detected in 7 individuals (3 with a presymptomatic mutation of the disease), 16 patients with age-related ATTR and 31 individuals with unknown cardiac amyloidosis with the tests performed, which confirms the presence of this disease in non-endemic areas. Conclusions: ATTR is a disease that must be taken into account in the differential diagnosis of patients with heart failure with preserved LVEF, especially if associated with neurological symptoms (AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Amyloidosis, Familial/diagnosis , Amyloidosis, Familial/metabolism , Prealbumin/metabolism , Tertiary Healthcare , Retrospective Studies , Diagnosis, DifferentialABSTRACT
BACKGROUND AND OBJECTIVE: Transthyretin amyloidosis (ATTR) is a rare disease that is part of systemic amyloidosis and is life-threatening. It can affect all organs and systems, the most frequent being neurological and cardiac involvement. This study aims to detect possible ATTR cases and carry out a descriptive study of them. MATERIAL AND METHODS: Descriptive single-centre study carried out in a tertiary hospital, which included patients with suspected ATTR between September 2016 and January 2020. RESULTS: A total of 190 suspected ATTR patients were detected. The study includes 100 of these patients, as well as 10 relatives of patients in whom ATTR was detected in its genetic variant (ATTRv). In total, ATTRv was detected in 7 individuals (3 with a presymptomatic mutation of the disease), 16 patients with age-related ATTR and 31 individuals with unknown cardiac amyloidosis with the tests performed, which confirms the presence of this disease in non-endemic areas. CONCLUSIONS: ATTR is a disease that must be taken into account in the differential diagnosis of patients with heart failure with preserved LVEF, especially if associated with neurological symptoms.
Subject(s)
Amyloid Neuropathies, Familial , Prealbumin , Amyloid Neuropathies, Familial/complications , Amyloid Neuropathies, Familial/diagnosis , Amyloid Neuropathies, Familial/genetics , Humans , Prealbumin/genetics , Referral and Consultation , Tertiary Care CentersABSTRACT
BACKGROUND AND OBJECTIVE: There are 2 types of amyloidosis caused by transthyretin deposits: the wild type (wt-ATTR) and the mutant type (m-ATTR), transmitted by autosomal dominant inheritance with variable penetrance, manifesting with neurological and/or cardiac symptoms. We report on 3 families affected by m-ATTR diagnosed in a nonendemic area. MATERIAL AND METHODS: We studied 63 patients with a high suspicion of ATTR. The diagnosis was subsequently performed by magnification through polymerase chain reaction of DNA. For the positive cases, we studied the first-degree relatives. RESULTS: We detected 7 positive cases of m-ATTR, distributed among 3 families (Glu74Gln, Val142Ile in heterozygosity and Val142Ile in homozygosity), and 3 cases of nonpathogenic variants. CONCLUSIONS: Hereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and/or heart failure with preserved ejection fraction.
Subject(s)
Alendronate/adverse effects , Bone Density Conservation Agents/adverse effects , Burns, Chemical/etiology , Esophageal Stenosis/chemically induced , Aged , Burns, Chemical/therapy , Catheterization , Deglutition Disorders/etiology , Esophageal Stenosis/therapy , Esophagitis/chemically induced , Esophagoscopy , Humans , Male , Osteoporosis/complications , Osteoporosis/drug therapySubject(s)
Drug-Related Side Effects and Adverse Reactions , Hospitals , Iatrogenic Disease , Peripheral Nervous System Diseases/chemically induced , Polyneuropathies/chemically induced , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Peripheral Nervous System Diseases/diagnosis , Peripheral Nervous System Diseases/physiopathology , Polyneuropathies/diagnosis , Polyneuropathies/physiopathology , Retrospective Studies , Young AdultABSTRACT
Fundamento. El objetivo del presente trabajo es conocerlas características epidemiológicas, el manejo diagnóstico yterapéutico, su seguimiento y la incidencia de diagnósticosalternativos en una muestra de pacientes diagnosticados decólico renal en el Servicio de Urgencias de un Hospital detercer nivel.Material y métodos. Estudio descriptivo retrospectivo de182 pacientes seleccionados aleatoriamente que consultanpor clínica compatible con cólico renal en un hospital detercer nivel, valorando su manejo inicial, seguimiento al altay diagnósticos alternativos.Resultados. El 55,4% fueron varones, la edad media fue de47,7 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 enmás del 70%. La función renal se deterioró en el 26,4 % delos casos, siempre de forma transitoria. La prueba de imagenrealizada con más frecuencia fue la radiografía de abdomen(81,9%) seguida de la ecografía (25,8%). El tratamiento incluyófluidoterapia en el 31,3% y el analgésico más usado fue elmetamizol (61%) seguido del ketorolaco (44,5%). El 46,2% delos pacientes necesitó más de un analgésico. Un total de 24pacientes precisaron ingreso hospitalario y 5 de ellos cirugíaurgente. El 24,1% presentó recaídas en los seis meses posteriores.El 41,6% fue remitido al Servicio de Urología al alta. El18,1% presentaron diagnósticos alternativos, siendo la pielonefritisaguda el más frecuente de ellos (55%).Conclusiones. Hemos detectado una importante variaciónen el manejo diagnóstico y terapéutico de estos pacientes.El uso de guías clínicas debe permitirnos unificar el manejodel paciente con cólico renal tanto en urgencias como posteriormente.El alto porcentaje de diagnósticos alternativosnos obliga a descartar sistemáticamente patologías másgraves(AU)
Background. To evaluate the diagnostic and therapeuticmanagement of patients with nephritic colic in a referralhospital, their monitoring and the incidence of alternativediagnoses.Methods. This is a retrospective review of 182 randomly selectedpatients who presented a clinical diagnosis compatiblewith nephritic colic in a referral hospital. In these casesinitial treatment, monitoring and alternative diagnoses havebeen evaluated.Results. Fifty-five point four percent of the patients weremale, the mean age was 47.7 years and 40% of the cases werein spring. Urinalysis was carried out in every patient (62.7%dipstick and 72% urinary sediment); they were pathologicalin over 70%. In 26.4% of cases renal function deteriorated,always transiently. Abdominal radiography (81.9%) was themost 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 followedby ketorolac (44.5%). More than one non-steroidal anti-inflammatory was used by 46.2%. Hospital admission wasrequired by 24 patients, and 5 of them needed emergencysurgery. Twenty-four point one percent of patients had relapsesduring the next six months. Forty-one point six percentwere referred to urology discharge on from the emergencyroom. Eighteen point one percent of patients had alternativediagnoses; acute pyelonephritis was the most frequent ofthese (55%).Conclusions. In our work we found a significant variationin the diagnostic and therapeutic management of these patients.The use of clinical guidelines could help us to unifythe management of patients with nephritic colic, both in theemergency room and on discharge. Due to the high prevalenceof alternative diagnoses, we have to systematicallyexclude more serious diseases(AU)
Subject(s)
Humans , Male , Female , Middle Aged , Colic/epidemiology , Colic/surgery , Diagnosis, Differential , Analgesics/administration & dosage , Dipyrone/therapeutic use , Ketorolac/therapeutic use , Pyelonephritis/complications , Colic , Colic/pathology , Analgesics/therapeutic use , Fluid Therapy/methods , Fluid Therapy , Retrospective Studies , 28599ABSTRACT
No disponible
Subject(s)
Tuberculosis, Meningeal/complications , Tuberculosis, Meningeal/diagnosis , Tuberculosis, Meningeal/epidemiology , Tuberculosis, Meningeal/physiopathologySubject(s)
Encephalitis, Varicella Zoster/complications , Leukemia, Lymphocytic, Chronic, B-Cell/complications , Meningoencephalitis/etiology , Tuberculosis, Meningeal/complications , Adrenal Cortex Hormones/adverse effects , Adrenal Cortex Hormones/therapeutic use , Aged , Brain/pathology , Comorbidity , Encephalitis, Varicella Zoster/pathology , Humans , Immunocompromised Host , Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis , Leukemia, Lymphocytic, Chronic, B-Cell/immunology , Magnetic Resonance Imaging , Male , Meningoencephalitis/microbiology , Meningoencephalitis/pathology , Meningoencephalitis/virology , Retinal Hemorrhage/etiology , Tuberculosis, Meningeal/pathology , Vision Disorders/etiologyABSTRACT
No disponible
Subject(s)
Humans , Male , Aged , Meningoencephalitis/diagnosis , Mycobacterium tuberculosis/isolation & purification , Herpesvirus 3, Human/isolation & purification , Immunocompromised HostABSTRACT
No disponible
Subject(s)
Humans , Male , Aged , Endocarditis, Bacterial/diagnosis , Klebsiella oxytoca/pathogenicity , Cross Infection/diagnosis , Klebsiella oxytoca , Endocarditis, Bacterial/drug therapyABSTRACT
Introducción: En las enfermedades crónicas cobra especial importancia la valoración de las repercusiones de la enfermedad en el día a día de los pacientes, es decir, el estudio de su calidad de vida. La enfermedad pulmonar obstructiva crónica (EPOC) es una de las enfermedades crónicas más relevantes en nuestro país, tanto por su prevalencia como por los recursos económicos que consume. Para la valoración de la calidad de vida en estos pacientes existen cuestionarios específicos como el SGRQ, que pueden ayudarnos a conocer mejor la enfermedad y su influencia sobre la vida del paciente. En nuestro trabajo se estudia la relación del cuestionario SGRQ con la edad, el consumo de tabaco, la gravedad de la obstrucción y sus valores gasométricos. Métodos: Se seleccionaron 51 pacientes con EPOC sin comorbilidades significativas y se les administró el cuestionario SGRQ mediante entrevista personal; de cada uno de los pacientes se recogieron además los datos espirométricos, gasométricos y su historia de consumo de tabaco. Resultados: Las puntuaciones medias en cada una de las escalas del test fueron: en la escala global 40.49±18.98, en la de síntomas 34,76 ± 16,31, en la de actividad 56,68 ± 23,72 y en la de impacto 32,86 ± 19,96. Se encontraron correlaciones significativas, aunque débiles, con la edad y el FEV1, pero no con los datos gasométricos ni el consumo acumulado de tabaco. Conclusiones: Podemos concluir que, en nuestro trabajo, los parámetros que mejor se correlacionan con la calidad de vida de los pacientes con EPOC son la edad y la gravedad de la obstrucción
Introduction: In chronic diseases take special importance their influence in patients daily life, in other words, on its quality of life. The Chronic Obstructive Pulmonary Disease (COPD) is one of the most important chronic diseases in our country, as much by its prevalence as by its economic impact. For the assessment of the life quality in these patients, we have specific questionnaires like the SGRQ, which can help us to better know the disease and its influence on patients life. In our work the relationship of SGRQ with age, tobacco consumption, gasometrical data and severity of the disease are studied. Methods: 51 patients with COPD and without significant comorbidities were selected and the SGRQ was administered to them by a trained interviewer; for every patient we also recovered the gasometrical values, the spirometric data, and their tobacco consumption background. Results: The average score in each one of SGRQ scales were: global scale 40.49 ± 18.98, symptoms scale 34.76 ± 16.31, activity scale 56.68 ± 23.72 and in the impact scale 32.86 ± 19.96. We have found weak but significant correlations between the SGRQ results and the patient´s age and the FEV1, but not with the gasometrical data or with the accumulated tobacco consumption. Conclusion: 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
Subject(s)
Male , Female , Adult , Middle Aged , Aged , Humans , Pulmonary Disease, Chronic Obstructive/diagnosis , Quality of Life , Pulmonary Disease, Chronic Obstructive/complications , Spirometry , Tobacco Use Disorder , Surveys and QuestionnairesABSTRACT
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.
Subject(s)
Gasoline/adverse effects , Pneumonia, Lipid/etiology , Accidents , Acute Disease , Adult , Follow-Up Studies , Humans , Male , Pneumonia, Lipid/diagnostic imaging , Radiography, Thoracic , Time Factors , Tomography, X-Ray ComputedABSTRACT
Se presenta el caso de un varón de 35 años, sin historia previa de patología pulmonar crónica y no fumador, que acude al servicio de urgencias tras la aspiración accidental de gasóleo y desarrolla en el curso de unas horas una neumonía lipoidea. En la tomografía computadorizada (TC) se observa una zona en vidrio deslustrado en lóbulo medio que, junto a la presencia del antecedente epidemiológico inmediato, permite establecer el diagnóstico. Tras un año de seguimiento el paciente permanece estable y asintomático, aunque persisten en la TC leves secuelas del proceso agudo
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
Subject(s)
Male , Adult , Humans , Pneumonia, Lipid/complications , Pneumonia, Lipid/diagnosis , Tomography, Emission-Computed/methods , Pneumonia, Aspiration/complications , Pneumonia, Aspiration/diagnosis , Fluid Therapy/methods , Adrenal Cortex Hormones/therapeutic use , Pulmonary Alveolar Proteinosis/complications , Fuel Oils/toxicity , Bronchoscopy/methods , Pneumonia, Lipid/epidemiology , Pneumonia, Lipid/physiopathology , Radiography, Thoracic/methodsSubject(s)
Cross Infection , Endocarditis, Bacterial , Klebsiella Infections , Klebsiella oxytoca , Aged , Cross Infection/diagnosis , Cross Infection/drug therapy , Endocarditis, Bacterial/diagnosis , Endocarditis, Bacterial/drug therapy , Humans , Klebsiella Infections/diagnosis , Klebsiella Infections/drug therapy , MaleABSTRACT
INTRODUCTION: In chronic diseases take special importance their influence in patient s daily life, in other words, on its quality of life. The Chronic Obstructive Pulmonary Disease (COPD) is one of the most important chronic diseases in our country, as much by its prevalence as by its economic impact. For the assessment of the life quality in these patients, we have specific questionnaires like the SGRQ, which can help us to better know the disease and its influence on patient s life. In our work the relationship of SGRQ with age, tobacco consumption, gasometrical data and severity of the disease are studied. METHODS: 51 patients with COPD and without significant comorbidities were selected and the SGRQ was administered to them by a trained interviewer; for every patient we also recovered the gasometrical values, the spirometric data, and their tobacco consumption background. RESULTS: The average score in each one of SGRQ scales were: global scale 40.49 +/- 18.98, symptoms scale 34.76 +/- 16.31, activity scale 56.68 +/- 23.72 and in the impact scale 32.86 +/- 19.96.We have found weak but significant correlations between the SGRQ results and the patient s age and the FEV1, but not with the gasometrical data or with the accumulated tobacco consumption. CONCLUSION: 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.
Subject(s)
Pulmonary Disease, Chronic Obstructive , Quality of Life , Aged , Female , Humans , Male , Middle Aged , Pulmonary Disease, Chronic Obstructive/diagnosis , Surveys and QuestionnairesABSTRACT
The urolithiasis is a very common disease that it causes, in addition to the suffering for the patients, an important cost sanitary partner. The composition of the renal stones that can influence in the treatment and later evaluation of the disease, varies in the different zones. In our work the composition of the renal stones received in the Biochemistry department of the H.C.U of Zaragoza studies during year 2002, with a brief approach to the epidemiology of the disease in the Area III of Zaragoza. The rate of incidence was of 0.35% with a clear predominance in men; the most frequent renal stones were those of pure calcium oxalate or calcium oxalate combined with apatite carbonate, although the percentage of samples gathered with respect to the total of diagnoses as soon as it surpassed 10%. Not found significant differences between the composition of the renal stones coming from the different zones from our Area, nor based on the sex of the patients. Given the influence of the composition of the urolithiasis for its treatment, we must insist on the collection of the greater number of samples for its analysis, although the epidemiologic data and the study of the urinary sediment can be used in the practice.