Impact of SARS-CoV-2 infection on liver disease.

Introduction: Abnormal liver biochemistry is not a rare finding in the context of SARS-CoV-2 infection, regardless of patients having pre-existing chronic disease or not. Content: This review examines the current body of knowledge on the relationship between COVID-19 and liver injury, which is frequently found in this setting. Summary: Although the pathogenesis of liver injury is not fully understood, it has been suggested to be the result of a combination of multiple factors. These include direct injury caused by the virus, immune system hyperactivation, ischemic and drug-induced injury. The prognostic valor of these alterations is also the subject of intense research. Due to their potential impact, these alterations require proper management and treatment, especially in patients with chronic liver disease or liver transplant recipients. Outlook: Some aspects associated with liver injury during COVID-19, especially in severe presentations, are not well understood. Studies assessing the clinical impact of COVID-19 on the healthy or diseased liver may help adjust treatment and immunization guidelines to the profile of the patient.

Control of occult hepatitis B virus infection.

Background: The diagnosis of hepatitis B virus (HBV) infection requires HBV DNA testing and serologic testing for detection of the surface antigen (HBsAg) and the hepatitis B core antibody (anti-HBc). There is a population of patients with occult HBV infection (OBI), which is not detected by HBsAg or HBV DNA quantification in blood, despite the presence of active replication in the liver. Scope: This document provides a definition of OBI and describes the diagnostic techniques currently used. It also addresses the detection of patients with risk factors and the need for screening for OBI in these patients. Summary: Correct diagnosis of OBI prevents HBV reactivation and transmission. Diagnosis of OBI is based on the detection of HBV DNA in patients with undetectable HBsAg in blood. Perspectives: A high number of patients with OBI may remain undiagnosed; therefore, screening for OBI in patients with factor risks is essential. For a correct diagnosis of OBI, it is necessary that new markers such as ultrasensitive HBsAg are incorporated, and a more comprehensive marker study is performed by including markers such as cccDNA.

Comparison of three methods for determining anti-thyrotropin receptor antibodies (TRAb) for diagnosis of Graves' disease: a clinical validation.

Objectives: Graves' disease is secondary to the presence of anti-thyrotropin receptor antibodies (TRAb), which stimulate thyroid hormones. TRab determination is crucial for etiological diagnosis. The objectives of this study were (i) to compare two methods for determining TRab by chemoluminiscence vs. standard TRACE-immunofluorescence; (ii) to determine the diagnostic validity of the three methods. Methods: A retrospective study in 194 patients with a TRAb determination request. TRAb were determined by immunofluorescence (Kryptor, ThermoFisher) and chemiluminescence (Immulite, Siemens and Maglumi, Snibe). Clinical validation: medical records were reviewed and categorized according to thyroid function. Statistical analysis: Differences in quantitative variables were assessed by intraclass correlation coefficient, Bland-Altman plot, and mean differences (mD). Qualitative variables were dichotomized by cut-off points; Kappa coefficient was calculated. Correlations were evaluated by Pearson's coefficient and Passing-Bablok regression analysis. The diagnostic validity of the three methods was investigated. Results: Kryptor-Immulite: mD: 1.2 (95%CI: -16 to >18). Passing-Bablok: Constant error (95%CI: -0.8349 to -0.5987). Proportional error (95%CI: 0.7862-1.0387). ICC: 0.86 (95%CI: 0.82-0.89). Kappa coefficient: 0.68 (95%CI 0.59-0.78). Kryptor-Maglumi: mD: -0.3 (95%CI: -12 to >12). Passing-Bablok: Constant error (95%CI: -0.7701 to >0.1621. Proportional error (95%CI: 0.8571 to 1.3179. ICC: 0.93 (95%CI: 0.89-0.97). Kappa coefficient: 0.53 (95%CI: 0.32-0.74). Diagnosis of Graves' disease was confirmed in 113 patients (Kryptorf showed better specificity and positive predictive value, whereas Immulite demonstrated better sensitivity and negative predictive value). Conclusions: The three methods have a good diagnostic performance for Graves' disease, with superimposable results on Bland-Altman plot. Interchangeability was not confirmed on the regression and agreement analysis, with the presence of biases.

Detección y diagnóstico molecular de un nuevo caso de analbuminemia congénita / Detection and molecular diagnosis of a new case of congenital analbuminaemia

INTRODUCCIÓN Y OBJETIVOS: La analbuminemia congénita (AAC) (MIM #616000) es una enfermedad autosómica recesiva (prevalencia <1/106) causada por defectos en el gen ALB que implican la ausencia o marcada disminución de la albuminemia. En este artículo, describimos un caso de AAC detectado en nuestro hospital. MATERIAL Y MÉTODOS: Mujer de 42 años con hipoproteinemia e hipoalbuminemia de causa no filiada. El estudio bioquímico se realizó siguiendo las técnicas y los controles de calidad habituales de nuestro laboratorio: albuminemia (colorimetría y nefelometría); electroforesis de proteínas (capilar y gel de agarosa) y análisis molecular del gen ALB (extracción de ADN y amplificación PCR de los 14 exones codificantes más regiones intrónicas adyacentes y secuenciación Sanger). RESULTADOS: Descartadas las causas más frecuentes de hipoalbuminemia, se confirmó la analbuminemia por electroforesis y nefelometría. El estudio molecular del gen ALB evidenció la presencia de la variante c.1289+1G>A (variante Guimarães) en homozigosis. CONCLUSIONES: Este es el primer caso confirmado mediante estudio molecular de AAC en España. La paciente presenta la variante Guimarães descrita previamente en otros 4 pacientes en el mundo

INTRODUCTION AND OBJECTIVES: Congenital analbuminaemia (CCA) (MIM #616000) is an autosomal recessive disorder (prevalence < 1/106) caused by defects in the ALB gene leading to absence or severe reduction of albuminaemia. This paper describes a case of CCA detected and diagnosed in our hospital. MATERIALS AND METHODS: A 42-year old woman showing hypoproteinaemia and hypoalbuminaemia of unknown aetiology. Biochemical study was performed according to routine quality controlled analytical procedures: Albuminaemia (colorimetric and nephelometric methods). Protein electrophoresis (capillary and agarose gel). Molecular study of the ALB gene: DNA extraction, PCR amplification of the 14 coding exons plus adjacent intron regions and Sanger sequencing. RESULTS: After discarding the most common causes of hypoalbuminaemia, the analbuminaemia was confirmed by nephelometry and protein electrophoresis. The proband was found to be homozygous for molecular defect in the ALB gene: variant c.1289+1G>A previously reported as Guimarães variant. CONCLUSIONS: This is the first case of CCA confirmed by molecular study in Spain. The proband shows the Guimarães variant previously described in 4 patients worldwide

Detection and molecular diagnosis of a new case of congenital analbuminaemia. / Detección y diagnóstico molecular de un nuevo caso de analbuminemia congénita.

INTRODUCTION AND OBJECTIVES: Congenital analbuminaemia (CCA) (MIM #616000) is an autosomal recessive disorder (prevalence < 1/106) caused by defects in the ALB gene leading to absence or severe reduction of albuminaemia. This paper describes a case of CCA detected and diagnosed in our hospital. MATERIALS AND METHODS: A 42-year old woman showing hypoproteinaemia and hypoalbuminaemia of unknown aetiology. Biochemical study was performed according to routine quality controlled analytical procedures: Albuminaemia (colorimetric and nephelometric methods). Protein electrophoresis (capillary and agarose gel). Molecular study of the ALB gene: DNA extraction, PCR amplification of the 14 coding exons plus adjacent intron regions and Sanger sequencing. RESULTS: After discarding the most common causes of hypoalbuminaemia, the analbuminaemia was confirmed by nephelometry and protein electrophoresis. The proband was found to be homozygous for molecular defect in the ALB gene: variant c.1289+1G>A previously reported as Guimarães variant. CONCLUSIONS: This is the first case of CCA confirmed by molecular study in Spain. The proband shows the Guimarães variant previously described in 4 patients worldwide.