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1.
Kidney360 ; 2(11): 1770-1780, 2021 11 25.
Artículo en Inglés | MEDLINE | ID: mdl-35372991

RESUMEN

Background: Immune responses to vaccination are a known trigger for a new onset of glomerular disease or disease flare in susceptible individuals. Mass immunization against SARS-CoV-2 in the COVID-19 pandemic provides a unique opportunity to study vaccination-associated autoimmune kidney diseases. In the recent literature, there are several patient reports demonstrating a temporal association of SARS-CoV-2 immunization and kidney diseases. Methods: Here, we present a series of 29 cases of biopsy-proven glomerular disease in patients recently vaccinated against SARS-CoV-2 and identified patients who developed a new onset of IgA nephropathy, minimal change disease, membranous nephropathy, ANCA-associated GN, collapsing glomerulopathy, or diffuse lupus nephritis diagnosed on kidney biopsies postimmunization, as well as recurrent ANCA-associated GN. This included 28 cases of de novo GN within native kidney biopsies and one disease flare in an allograft. Results: The patients with collapsing glomerulopathy were of Black descent and had two APOL1 genomic risk alleles. A brief literature review of patient reports and small series is also provided to include all reported cases to date (n=52). The incidence of induction of glomerular disease in response to SARS-CoV-2 immunization is unknown; however, there was no overall increase in incidence of glomerular disease when compared with the 2 years prior to the COVID-19 pandemic diagnosed on kidney biopsies in our practice. Conclusions: Glomerular disease to vaccination is rare, although it should be monitored as a potential adverse event.


Asunto(s)
COVID-19 , Glomerulonefritis por IGA , Apolipoproteína L1 , Vacunas contra la COVID-19/efectos adversos , Glomerulonefritis por IGA/epidemiología , Humanos , Pandemias , SARS-CoV-2 , Vacunación/efectos adversos
2.
Genet Med ; 19(1): 83-89, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27337029

RESUMEN

PURPOSE: Chromosomal microarray analysis (CMA) is currently considered first-tier testing in pediatric care and prenatal diagnosis owing to its high diagnostic sensitivity for chromosomal imbalances. The aim of this study was to determine the efficacy and diagnostic power of CMA in both fresh and formalin-fixed paraffin-embedded (FFPE) samples of products of conception (POCs). METHODS: Over a 44-month period, 8,118 consecutive samples were received by our laboratory for CMA analysis. This included both fresh (76.4%) and FFPE samples (22.4%), most of which were ascertained for recurrent pregnancy loss and/or spontaneous abortion (83%). The majority of samples were evaluated by a whole-genome single-nucleotide polymorphism (SNP)-based array (81.6%); the remaining samples were evaluated by array-comparative genomic hybridization (CGH). RESULTS: A successful result was obtained in 7,396 of 8,118 (91.1%), with 92.4% of fresh tissue samples and 86.4% of FFPE samples successfully analyzed. Clinically significant abnormalities were identified in 53.7% of specimens (3,975 of 7,396), 94% of which were considered causative. CONCLUSION: Analysis of POC specimens by karyotyping fails in 20-40% of cases. SNP-based CMA is a robust platform, with successful results obtained in >90% of cases. SNP-based CMA can identify aneuploidy, polyploidy, whole-genome homozygosity, segmental genomic imbalances, and maternal cell contamination, thus maximizing sensitivity and decreasing false-negative results. Understanding the etiology of fetal loss enables clarification of recurrence risk and assists in determining appropriate management for future family planning.Genet Med 19 1, 83-89.


Asunto(s)
Aborto Espontáneo/genética , Hibridación Genómica Comparativa/métodos , Pruebas Genéticas , Diagnóstico Prenatal , Aborto Espontáneo/diagnóstico , Adulto , Factores de Edad , Aneuploidia , Aberraciones Cromosómicas , Femenino , Humanos , Hibridación Fluorescente in Situ/métodos , Cariotipificación/métodos , Persona de Mediana Edad , Adhesión en Parafina , Polimorfismo de Nucleótido Simple , Embarazo
3.
Obstet Gynecol ; 120(2 Pt 2): 473-476, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22825270

RESUMEN

BACKGROUND: Ovarian pathology, including nonfunctional tumors and massive edema of the ovary, has been associated with stromal luteinization and clinical endocrinopathies. CASE: An adolescent girl presented with primary amenorrhea, clitoromegaly, and large abdominopelvic mass. Laboratory evaluation revealed an elevated serum total testosterone level of 241 ng/dL. Magnetic resonance imaging confirmed three cystic adnexal structures, with the largest measuring 16 × 8 × 18 cm. Surgery with pelvic washings, bilateral ovarian cystectomies, unilateral paratubal cystectomy, and bilateral ovarian biopsies were performed. Pathology confirmed bilateral mucinous cystadenomas and massive edema of the ovaries. Postoperatively, the serum total testosterone level normalized. CONCLUSION: Nonfunctional ovarian tumors and massive edema of the ovaries should be considered in the differential diagnosis for a patient presenting with signs of hyperandrogenism.


Asunto(s)
Cistoadenoma Mucinoso/patología , Edema/patología , Enfermedades del Ovario/patología , Neoplasias Ováricas/patología , Virilismo/diagnóstico , Adolescente , Amenorrea/etiología , Cistoadenoma Mucinoso/cirugía , Drenaje , Edema/cirugía , Femenino , Humanos , Hiperandrogenismo/diagnóstico , Imagen por Resonancia Magnética , Enfermedades del Ovario/cirugía , Neoplasias Ováricas/cirugía , Testosterona/sangre , Tomografía Computarizada por Rayos X
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