ABSTRACT
The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson-Fabry Disease (AFD) presentation patterns. The aim of this study was to analyze the penetrance, clinical phenotype, and biochemical profile of an international cohort of patients carrying the p.Arg301Gln genetic variant in the GLA gene. This was an observational, international, and retrospective cohort case series study of patients carrying the p.Arg301Gln variant in the GLA gene associated with AFD disease. Forty-nine p.Arg301Gln GLA carriers, 41% male, were analyzed. The penetrance was 63% in the entire cohort and 1.5 times higher in men. The mean age of symptoms onset was 41 years; compared to women, men presented symptoms earlier and with a shorter delay to diagnosis. The typical clinical triad-cornea verticillate, neuropathic pain, and angiokeratomas-affected only 20% of the cohort, with no differences between genders. During follow-up, almost 20% of the patients presented some type of nonfatal cardiovascular and renal event (stroke, need for dialysis, heart failure, and arrhythmias requiring intracardiac devices), predominantly affecting men. Residual levels were the most common finding of α-GAL A enzyme activity, only a few women had a normal level; a small proportion of men had undetectable levels. The incidence of combined outcomes including all causes of death was 33%, and the cumulative incidence of all-cause mortality was 9% at the follow-up. Patients carrying the p.Arg301Gln GLA variant have a high penetrance, with predominantly cardiorenal involvement and clinical onset of the disease in middle age. Only a small proportion showed the classic clinical presentation of AFD. As in other X-linked diseases, males were more affected by severe cardiovascular and renal events. This genotype-phenotype correlation could be useful from a practical clinical point of view and for future decision making.
Subject(s)
Fabry Disease , Phenotype , alpha-Galactosidase , Humans , Fabry Disease/genetics , Male , alpha-Galactosidase/genetics , Female , Middle Aged , Adult , Retrospective Studies , Aged , PenetranceABSTRACT
Resumen Introducción : La mortalidad de la endocarditis infec ciosa (EI) en Argentina continúa siendo elevada. El obje tivo del trabajo fue describir las características clínicas e identificar factores asociados a mortalidad en pacientes con EI de válvula nativa. Métodos : Estudio de cohorte retrospectiva que inclu yó pacientes adultos con diagnóstico de EI de válvula nativa internados durante 2011-2021. Resultados : Se incluyeron 129 pacientes con una edad promedio de 66±17 años. El organismo responsa ble más frecuente (38.8%, n = 50) fue el Staphylococcus aureus (SA). El 63.6% presentó criterios de indicación quirúrgica. La mortalidad durante la internación fue del 22.5%. En el análisis multivariado que incluyó índice de comorbilidad Charlson, infección por SA y la presencia de criterios de indicación quirúrgica, se observó un OR ajustado de mortalidad de 1.32 (IC95% 1.10-1.57; p = 0.003), 2.75 (IC95% 1.11-6.8; p = 0.028) y 4.14 (IC95% 1.34-12; p = 0.013), respectivamente. En el análisis mul tivariado para mortalidad alejada que agregó el criterio quirúrgico y la realización de cirugía durante la inter nación, se observó un OR ajustado de 1.62 (IC95% 1.31- 2.00; p < 001), 0.77 (IC95% 0.31-1.93; p = 0.58), 7.49 (IC95% 2.07-27.07; p = 0.002) y 0.21 (IC95% 0.06-0.70; p = 0.01), respectivamente. Conclusiones : La mortalidad de la EI se asoció al grado de comorbilidad previa, a la forma de presenta ción y, en relación inversa, a la realización oportuna del tratamiento quirúrgico.
Abstract Introduction : Mortality of infective endocarditis (IE) in Argentina continues to be high. The aim objective was to describe the clinical characteristics and identify factors associated with in-hospital and long-term mortality in patients with native valve IE. Methods : Retrospective cohort study including adult patients with diagnosis of native valve IE, hospitalized during 2011-2021. Results : A total of 129 patients with a mean age of 66±17 years were included. The most frequent respon sible organism was Staphylococcus aureus (SA) (38.8%). Surgical indication criteria were present in 63.6% of the patients. Mortality during hospitalization was 22.5% .In the multivariate analysis that included Charlson comorbidity index, SA infection and the presence of surgical indication criteria, an adjusted OR of mor tality of 1.32 (95%CI 1.10-1.57; p = 0.003), 2.75 (95%CI 1.11-6.8; p = 0.028) and 4.14 (95%CI 1.34-12; p = 0.013), respectively, was observed. In the multivariate analysis for long term mortality, that added surgical indication criteria and the performance of surgery during hospitalization, an adjusted OR of 1.62 (CI95% 1.31-2.00; p<001), 0.77 (95%CI 0.31-1.93; p = 0.58), 7.49 (95%CI 2.07-27.07; p = 0.002) and 0.21 (95%CI 0.06-0.70; p = 0.01), respec tively, was observed. Conclusions : Mortality in IE was associated with the degree of previous comorbidity, with the presence of surgical indication criteria and, inversely, with the timely completion of surgical treatment.
ABSTRACT
RESUMEN Introducción: Una proporción significativa de los pacientes con válvula aórtica bicúspide (VAB) desarrollan una dilatación de la aorta que los predispone a serias complicaciones. Objetivos: Estimar la prevalencia de dilatación aórtica aplicando los valores de referencia de la población argentina en pacientes con VAB y la influencia de los distintos métodos de indexación (talla, T, y superficie corporal, SC). Materiales y métodos: Se incluyeron consecutivamente 581 pacientes adultos con VAB. Se definió la dilatación según el criterio propuesto por las guías (fórmulas de Devereux) y sobre la base de los valores propuestos por el registro MATEAR (Medición de Aorta Torácica por Ecocardiografía en Argentina). Resultados: La edad media fue de 44,9 años (±16), 68,7% sexo masculino. Sobre la base del registro MATEAR se observó alta prevalencia de dilatación de la raíz aórtica o aorta ascendente (72,3% según T y 61,5% según SC) que resultó, en la raíz, mayor que la obtenida según las fórmulas de Devereux (T 47% vs. 31,5%; SC 35,2% vs. 26,5% p < 0,001). Se observó una subestimación sistemática al indexar por SC en pacientes con índice de masa corporal >25 kg/m² (57,8% de la población). Conclusiones: La prevalencia de dilatación aórtica, cuando aplicamos los valores de referencia para la población argentina, fue alta y en la raiz significativamente mayor que la determinada por puntos de corte originados en otras poblaciones. Se observó una subestimación sistemática al corregir por superficie corporal en pacientes con índice de masa corporal >25 kg/m², por lo que indexar por talla sería la opción más recomendable.
ABSTRACT Background: A significant proportion of patients with bicuspid aortic valve (BAV) develop aortic dilation predisposing to serious complications. Objective: The aim of this study was to estimate the prevalence of aortic dilation applying reference values for the Argentine population in patients with BAV, and the influence of different indexing methods [height, (H) and body surface area (BSA)] Methods: A total of 581 adult patients with BAV were consecutively included in the study. Aortic dilation was defined according to guideline criteria (Devereux formula) and the reference values suggested by the Echocardiography Thoracic Aortic Assessment in Argentina (MATEAR) registry. Results: Mean age was 44.9±16 years and 68.7% were men. A high prevalence of aortic root or ascending aorta dilation was observed based on MATEAR criteria (72.3% according to H and 61.5 % according to BSA). This was significantly higher for the aortic root than the one obtained with the Devereux formula (H: 47% vs. 31.5%; BSA: 35.2% vs. 26.5% P <0.001). A systematic underestimation was found when indexing for BSA in patients with body mass index (BMI) >25 kg/m² (57.8% of population). Conclusions: When applying the reference values for the Argentine population the prevalence of aortic dilation was high and significantly greater than at the root that determined by cutoff points originating in other populations. Systematic underestimation was observed when correcting for BSA in patients with BMI >25 kg/m², so indexing by H would be the most recommended option.
ABSTRACT
INTRODUCCIÓN: En la valoración inicial de un paciente con cefalea, el médico se plantea con frecuencia si el dolor se corresponde con una migraña y si el paciente precisa pruebas de neuroimagen. El objetivo del trabajo fue valorar la validez y aplicabilidad de la regla nemotécnica POUNDing en pacientes diagnosticados de migraña. PACIENTES Y MÉTODOS: Estudio descriptivo, de aplicación de la regla POUNDing en pacientes con diagnóstico de migraña y con realización de alguna prueba de imagen cerebral (tomografía computarizada o resonancia magnética), en un centro de salud urbano y en una consulta de Neurología del Hospital Universitario de Badajoz. RESULTADOS: Se incluyó a 116 pacientes (edad media 45,6 años; 79,3% mujeres; 70 procedentes de consultas de Neurología y 46 del centro de salud). Destacaron en las comparaciones los elevados valores predictivos positivos: 90,9% (IC 95%: 57,1-99,5%); 100% (IC 95%: 73,2-99,3%) y 96,0% (IC 95%: 77,7-99,8%), en los pacientes de la consulta de Neurología, del centro de salud y en la población total, respectivamente, y sus bajos valores predictivos negativos: 6,8% (IC 95%: 2,2-17,3%); 3,1% (IC 95%: 0,2-18,0%) y 5,5% (IC 95%: 2,0-12,9%), también respectivamente en los pacientes de la consulta de Neurología, del centro de salud y en la población total. CONCLUSIONES: La regla POUNDing presenta un alto valor predictivo positivo y podría ser de gran ayuda en la aceptación o rechazo de un diagnóstico de migraña, al facilitar un uso más eficiente de las pruebas de neuroimagen
INTRODUCTION: In assessing the patient with headache, clinicians are often faced with 2 important questions: Is this headache a migraine? Does this patient require neuroimaging? The aim of this study was to assess the validity and applicability of the mnemonic POUNDing rule in patients diagnosed with migraine. PATIENTS AND METHODS: A descriptive, validation study of the POUNDing rule in patients with a diagnosis of migraines and with a brain imaging test (computed tomography or magnetic resonance imaging), in an urban health centre and a neurology clinic of the University Hospital of Badajoz. RESULTS: A total of 116 patients were included (mean age 45.6 years; 79.3% women, 70 from the neurology clinics, and 46 from the health centre). The best validity parameters of the POUNDing rule were its positive predictive values: 90.9% (95% CI: 57.1-99.5%), 100% (95% CI: 73.2-99.3%), and 96.0% (95% CI: 77.7-99.8%) in the patients of the neurology clinic, the health centre and in the total population, respectively, and its low negative predictive values: 6.8% (95% CI: 2.2-17.3%), 3.1% (95% CI: 0.2-18.0%), and 5.5% (95% CI: 2.0-12.9%), also respectively in the patients of the neurology clinic, the health centre and in the total population. CONCLUSIONS: The POUNDing mnemonic rule has a high positive predictive values and can be a great help in accepting or rejecting a diagnosis of migraine, facilitating a more efficient use of neuroimaging tests