Haemoadsorption Combined with Continuous Renal Replacement Therapy in Abdominal Sepsis: Case Report Series.

In recent decades, multiple efforts have been made to identify targets and therapeutic measures in the host response to infection. Haemoadsorption, under the attractive theoretical premise of inflammatory response modulation through the adsorption of soluble inflammatory mediators, could have a place as an adjuvant therapy in septic patients. The development of new devices and the recent COVID-19 pandemic has renewed interest in this therapy. The aim of this report is to describe our experience in patients with abdominal sepsis for whom haemoadsorption with a neutral microporous resin column was added to conventional treatment and to describe its performance through patient cases in the absence of large randomised trials with this device. We present five patients with abdominal sepsis admitted to a Spanish intensive care unit in which haemoadsorption was used as adjuvant treatment. The key practical aspects of the treatment protocol have been used as a guide for conducting a multicentric study. Based on the experience gathered in these five cases, the potential benefit of haemoadsorption as adjuvant therapy in patients with abdominal sepsis with multiple organ failure after control of the source of infection and adequate treatment should be investigated. Likewise, it must be defined which patients can benefit from the therapy, the most appropriate biomarkers to guide the therapy, the ideal time of initiation and discontinuation, its potential side effects, and the interaction with other therapies, especially how such treatment affects the antibiotics levels.

Mosaic Trisomy 5: Prenatal Genetic Diagnosis and Outcomes of a New Case.

Chromosomal mosaicism is defined as the presence of two or more different cell lines in an organism that originate from the same embryo. Trisomy of chromosome 5 is one of the most severe forms of autosomal trisomy and only seven cases of mosaic trisomy 5 have been reported to date. Mosaicism at prenatal level constitutes a challenge in genetic counseling, particularly in the case of mosaic trisomy 5, due to its low incidence. We report the case of a girl with a prenatal diagnosis of mosaic trisomy 5. The pre- and postnatal genetic tests (noninvasive prenatal testing, array comparative genomic hybridization, karyotype in amniotic fluid cells, karyotype in peripheral blood, and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, suggesting a prezygotic meiotic error corrected through late trisomic rescue in the zygote.

Anomalías de la diferenciación sexual: a propósito de un caso / Anomalies of sexual differentiation: presentation of a case

Las disgenesias gonadales mixtas (DGM) son trastornos de la diferenciación sexual poco frecuentes, pero constituyen una causa importante de infertilidad. Presentan un cariotipo en mosaico con fórmula mos 45,X/46,XY y pueden dar lugar a gran variedad de fenotipos, encontrando desde diferentes grados de ambigüedad sexual en recién nacidos, hasta fenotipos masculinos normales, fenotipos femeninos normales o fenotipos del síndrome de Turner (ST). Se presenta el caso de una paciente diagnosticada de ST desde la pubertad a quien no se le detectó la presencia de fragmentos de cromosoma Y. Teniendo en cuenta que las pacientes diagnosticadas de ST con expresión de cromosoma Y (completo o parcial) tienen mayor riesgo de desarrollar gonadoblastoma, es importante resaltar la importancia de diagnosticar la presencia de cromosoma Y, recomendando incluso realizar de forma sistemática técnicas que aumenten la sensibilidad para detectarlo aunque no se haya detectado en el cariotipo

Mixed gonadal dysgenesis is a group of rare disorders of sexual differentiation and is a major cause of infertility. They show a mosaic karyotype 45,X/46,XY and can give rise to a great variety of phenotypes, finding from different degrees of sexual ambiguity in newborns, up to normal male phenotypes, normal female phenotypes or Turner syndrome (TS) phenotypes. The case is presented of a patient diagnosed with TS from puberty and in whom the presence of fragments of Y chromosome was not detected. Given that patients with a diagnosis of TS with Y chromosome expression (full or partial) are at increased risk of developing gonadoblastoma, it is important to emphasise the importance of diagnosing the presence of the Y chromosome, and even recommending systematically performing techniques that increase the sensitivity in order to detect it, even though it has not been detected in the karyotype