Publications by authors named "Gabriela Sevignani"
Introduction: The spectrum of clinical presentation of Fabry disease (FD) in women is broad and challenging. The aim is to evaluate the effectiveness of an alternative screening method for FD in women.
Methods: A collaborative multicenter cross-sectional study to evaluate the sensitivity and specificity of the combination of two tests (α-GAL enzyme activity assay and lyso-GL3 assay) for the diagnosis of FD in women.
Introduction And Objectives: To minimize our peritoneal dialysis (PD) population exposure to coronavirus disease (COVID-19), in April 2020 we developed and implemented a telemedicine program. In this investigation, we aimed to compare the hospitalization rates and metabolic disorders in patients undergoing PD 6 months before and after the COVID-19 pandemic and telemedicine implementation.
Materials And Methods: This single-center retrospective analysis included all active prevalent patients undergoing PD from April 2020.
Introduction: Urgent-start peritoneal dialysis (US-PD) has been proposed as a safe modality of renal replacement therapy (RRT) for end-stage renal disease (ESRD) patients with an indication for emergency dialysis initiation. We aimed to compare the characteristics, 30-day complications, and clinical outcomes of US-PD and planned peritoneal dialysis (Plan-PD) patients over the first year of therapy.
Methods: This was a single-center retrospective study that included incident adult patients followed for up to one year.
Introduction And Objectives: To minimize our peritoneal dialysis (PD) population exposure to coronavirus disease (COVID-19), in April 2020 we developed and implemented a telemedicine program. In this investigation, we aimed to compare the hospitalization rates and metabolic disorders in patients undergoing PD 6 months before and after the COVID-19 pandemic and telemedicine implementation.
Materials And Methods: This single-center retrospective analysis included all active prevalent patients undergoing PD from April 2020.
There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this field.
View Article and Find Full Text PDFIntroduction: Anemia is a frequent multifactorial complication of CKD seen in patients on dialysis derived mainly from impaired erythropoietin (EPO) production. A less common cause of anemia in individuals with CKD is pure red cell aplasia (PRCA) secondary to the production of anti-EPO antibodies.
Objective: This paper aimed two describe two cases of PRCA secondary to the production of anti-EPO antibodies including choice of treatment, patient progression, and a literature review.
Article Synopsis
- Pseudoporphyria is a rare skin condition similar to porphyria cutanea tarda but without the porphyrin metabolism issues, often linked to chronic kidney disease, UV exposure, and certain medications.
- A case described a 76-year-old man with stage 4 chronic kidney disease who developed ulcerated skin lesions while on furosemide, leading to a diagnosis of furosemide-induced pseudoporphyria after ruling out infections.
- Prompt diagnosis and treatment are crucial as, although the lesions are mostly benign, they can affect patient health significantly, especially in those with pre-existing conditions like chronic kidney disease.
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.
View Article and Find Full Text PDFIntroduction: Influenza A (H1N1) virus was first reported on April 2009 and, since then, several studies have reported the characteristics concerning the clinical presentation and pulmonary involvement. However, accurate information about the acute kidney injury (AKI) and kidney histopathological findings in these patients remain scarce.
Objective: To describe the kidney histopathological findings of 6 patients with H1N1 who developed AKI and underwent kidney biopsy, correlating them with clinical features.