Analysis of the expression of the Serpina1 gene in SARS-CoV-2 infection: study of a new biomarker.

INTRODUCTION: The SERPINA1 gene encodes the protein Alpha-1 Antitrypsin (AAT1). Possible imbalances between the concentrations of proteases and antiproteases (AAT1) can lead to the development of serious pulmonary and extrapulmonary pathologies. In this work we study the importance of this possible imbalance in patients with COVID-19. OBJECTIVES: To correlate the severity of the symptoms of SARS-COV-2 infection with the AAT1 concentrations at diagnosis of the disease. METHODS: An observational, prospective, cross-sectional, non-interventional, analytical study was carried out where 181 cases with COVID-19 admitted to the "Lozano Blesa" University Clinical Hospital of Zaragoza were selected. The concentration of AAT1 was studied in all of them and this was correlated with the clinical aspects and biochemical parameters at hospital admission. RESULTS: 141 cases corresponded to patients with severe COVID and 40 patients with mild COVID. AAT1 levels were positively correlated with the days of hospitalization, severity, C-Reactive Protein, ferritin, admission to Intensive Care, and death, and presented a negative correlation with the number of lymphocytes/mm3. AAT1 concentrations higher than 237.5 mg/dL allowed the patient to be classified as "severe" (S72%; E78%) and 311.5 mg/dL were associated with the risk of admission to Intensive Care or Exitus (S67%; E79%). CONCLUSIONS: Levels of the SERPINA1 gene expression product, AAT1, correlate with the severity of COVID-19 patients at diagnosis of the disease, being useful as a prognostic biomarker.

Fisiopatología de la enfermedad de Fabry / The pathophysiology of Fabry disease

La enfermedad de Fabry es una entidad lisosomal de expresión clínica sistémica, causada por el depósito tisular de globotriaosilceramida, debido a un déficit en su degradación. Como en la mayoría de las enfermedades lisosomales, la existencia de una mutación en un gen no explica las alteraciones fisiopatológicas que presentan los pacientes. Se realiza una revisión exhaustiva de los mecanismos patogénicos que acontecen en la enfermedad de Fabry (AU)

Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients. We conducted a comprehensive review of the pathogenic mechanisms that occur in Fabry disease (AU)

The pathophysiology of Fabry disease. / Fisiopatología de la enfermedad de Fabry.

Fabry disease is a lysosomal condition with systemic clinical expression, caused by the tissue deposit of globotriaosylceramide, due to a deficit in its degradation. As with most lysosomal diseases, the presence of a mutation in a gene does not explain the pathophysiological disorders shown by patients. We conducted a comprehensive review of the pathogenic mechanisms that occur in Fabry disease.

[Factors related with post-surgical complications in elderly patients with glioblastoma multiforme]. / Factores relacionados con complicaciones posquirurgicas en pacientes de edad avanzada con glioblastoma multiforme.

INTRODUCTION: Glioblastoma multiforme is the most frequent malignant tumour of the central nervous system, and its incidence reaches 80% in those over 50 years of age. Life expectancy has increased in the population in recent times and an analysis of the post-surgical complications affecting elderly patients is of great importance for a correct surgical indication. AIMS: To analyse the factors related with post-surgical complications in elderly patients. PATIENTS AND METHODS: A sample of 88 patients diagnosed with glioblastoma multiforme between 31 and 78 years of age was analysed retrospectively. The variables taken into consideration in the study were: personal medical history, age, functional status, pre-anaesthetic status, tumour characteristics, type of surgery and post-surgical complications. RESULTS: Age was observed to have an influence on local (p = 0.006) and systemic surgical complications (p = 0.034), and on the Clavien-Dindo scale (p = 0.001). Persons with a poorer functional status and cardiovascular risk presented more systemic complications (p = 0.006 and 0.044) and a lower score on the Clavien-Dindo scale (p = 0.024 and 0.025) respectively. Likewise, more local complications are found in the case of excisional procedures than in biopsies (p = 0.027). The pre-anaesthetic status and anti-haemostatic treatments were not related with such events. CONCLUSIONS: Patients over 65 years of age present a higher incidence of pathological antecedents and a poorer pre-surgical functional status. Age, cardiovascular risk, functional status and the type of surgical procedure have significantly increased the occurrence of post-surgical complications.

TITLE: Factores relacionados con complicaciones posquirurgicas en pacientes de edad avanzada con glioblastoma multiforme.Introduccion. El glioblastoma multiforme es el tumor maligno mas frecuente del sistema nervioso central, y su incidencia es del 80% en los mayores de 50 años. En los ultimos tiempos se ha producido un aumento en la esperanza de vida de la poblacion, y el analisis de las complicaciones posquirurgicas en pacientes de edad avanzada resulta de gran relevancia para una correcta indicacion quirurgica. Objetivo. Analizar factores relacionados con las complicaciones posquirurgicas en pacientes de edad avanzada. Pacientes y metodos. Se analizan retrospectivamente 88 pacientes diagnosticados de glioblastoma multiforme entre 31 y 78 años. Las variables estudiadas son: antecedentes personales, edad, estado funcional, estado preanestesico, caracteristicas tumorales, tipo de cirugia y complicaciones posquirurgicas. Resultados. Se observa una influencia de la edad en las complicaciones quirurgicas locales (p = 0,006) y sistemicas (p = 0,034) y en la escala de Clavien-Dindo (p = 0,001). Las personas con peor estado funcional y riesgo cardiovascular presentaron mas complicaciones sistemicas (p = 0,006 y 0,044) y peor graduacion en dicha escala (p = 0,024 y 0,025). Asimismo, hallamos mas complicaciones locales en las cirugias de exeresis que en las biopsias (p = 0,027). El estado preanestesico y los tratamientos antihemostaticos no se relacionaron con dichos eventos. Conclusiones. Los pacientes mayores de 65 años presentan una mayor incidencia de antecedentes patologicos y peor estado funcional prequirurgico. La edad, el riesgo cardiovascular, el estado funcional y el tipo de cirugia han aumentado de manera significativa las complicaciones posquirurgicas.

El estudio de la correlación entre el genotipo y el fenotipo: ¿éxito o fracaso? / Correlation study between genotype and phenotype: success or failure?

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Hepatotoxicidad por metformina / Metformin-associated hepatotoxicity

La metformina es un antidiabético oral de la familia de las biguanidas que se utiliza ampliamente en el tratamiento de pacientes con diabetes de tipo 2. Sus principales efectos secundarios son alteraciones inespecíficas gastrointestinales (10-30%). La acidosis láctica es el efecto secundario más grave, por lo que no debe administrarse a los pacientes con insuficiencia renal, hepática o cardiovascular grave. Se ha descrito de forma excepcional hepatotoxicidad por este fármaco. Presentamos el caso clínico de una paciente con diabetes mellitus de tipo 2 e inicio reciente de tratamiento con metformina que desarrolló un cuadro de hepatotoxicidad grave que siguió una evolución posterior favorable (AU)

Metformin is an oral biguanide widely used in the management of patients with type 2 diabetes. It produces non-specific gastrointestinal symptoms in 10-30% of the patients. Lactic acidosis is the most serious side effect, so it must not be administered to patients with renal, liver, or heart insufficiency. Only a few cases of hepatotoxicity due to this drug have been documented. We report the case of a patient with type 2 diabetes mellitus and recent use of metformin who developed serious liver injury, followed by a favorable evolution (AU)

[Metformin-associated hepatotoxicity]. / Hepatotoxicidad por metformina.

Metformin is an oral biguanide widely used in the management of patients with type 2 diabetes. It produces non-specific gastrointestinal symptoms in 10-30% of the patients. Lactic acidosis is the most serious side effect, so it must not be administered to patients with renal, liver, or heart insufficiency. Only a few cases of hepatotoxicity due to this drug have been documented. We report the case of a patient with type 2 diabetes mellitus and recent use of metformin who developed serious liver injury, followed by a favorable evolution.

Antibioterapia cíclica en colangitis aguda bacteriana recurrente en pacientes no quirúrgicos / No disponible

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[Diagnostic limitations of positron emission tomography. What are we seeking?]. / Limitaciones diagnósticas de la tomografía por emisión de positrones. ?Qué buscamos?

Positron emission tomography is an imaging technique based on the use of radiopharmaceuticals. The most extended one is the glucose analogue 18F fluorodeoxyglucose (FDG) that is deposited where there is an increase of glycolytic metabolism, whether this is caused by neoplastic, inflammatory or infectious diseases. It is used in oncology for the initial staging, to assess response to treatment, residual disease, recurrent diagnosis and restaging, but specifically among the different types of tumor. It also has a field in the study of large vessel vasculitis, in granulomatous diseases and in dementias.

Limitaciones diagnósticas de la tomografía por emisión de positrones. ¿Qué buscamos? / Diagnostic limitations of positron emission tomography. What are we seeking?

La tomografía por emisión de positrones es una técnica de imagen basada en la utilización de radiofármacos. El más extendido es la 18F fluorodeoxiglucosa (FDG) análogo de la glucosa que es captado allá donde hay un aumento del metabolismo glucolítico, ya sea originado por enfermedades neoplásicas, inflamatorias o infecciosas. Esto hace que sea una técnica muy sensible. En oncología es utilizada para la estadificación inicial, para valorar la respuesta al tratamiento, la enfermedad residual, el diagnóstico de recidiva y la reestadificación, pero con particularidades entre los distintos tipos de tumor. También tiene campo en el estudio de las vasculitis de grandes vasos, en las enfermedades granulomatosas y en las demencias

Positron emission tomography is an imaging technique based on the use of radiopharmaceuticals. The most extended one is the glucose analogue 18F fluorodeoxyglucose (FDG) that is deposited where there is an increase of glycolytic metabolism, whether this is caused by neoplastic, inflammatory or infectious diseases. It is used in oncology for the initial staging, to assess response to treatment, residual disease, recurrent diagnosis and restaging, but specifically among the different types of tumor. It also has a field in the study of large vessel vasculitis, in granulomatous diseases and in dementias (AU)

Hemorragia digestiva de origen atípico / Digestive bleeding with atypical cause

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Endocarditis nosocomial por Klebsiella oxytoca / No disponible

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