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Currently filtering by tag: APOL1

Diagnose This (August 10, 2020)

Tags: Collapsing GN, Nephrotic syndrome, APOL1, G1/G2, transplant, COVID-19, Diagnose This
What is your diagnosis?     ​ ​   ​   ​ ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​   ​ ​   ​ ​   ​ ​   ​ ​     ​   ​   ​ ​  ...

Another MYMP Sighting!

MYMP, Caza and Larsen, Covid-19 research
Another MYMP sighting! Durning our case conference today, Dr. Caza and Dr. Larsen discussed their recently published paper covering AKI and collapsing glomerulopathy associated with COVID-19 and APOL1.  Read the paper: AKI and Collapsing Glomerulopathy Associated with COVID-19 and APOL1 High-Risk Genotype Where will the MYMP land next?  

Twitter Poll (September 26, 2019)

APOL1 Risk Variants, Twitter Poll, renal disease, arkana laboratories
ANSWER: C APOL1-risk alleles have been reported only on African-derived chromosomes, including individuals from West Africa and recently admixed individuals from the United States or the Caribbean. Approximately 13% of the US African American population carries the APOL1 high-risk genotype. Recent data suggest that this risk is strongly associated with two common variants (G1 and G2) in the last exon of APOL1 that confer resistance to Trypanosoma brucei infections. The highest G1 and G2 allelic frequencies were described in Western, sub-Saharan Africa, with frequencies >40% for G1 in Ghana and Nigeria, and 24% for G2 in Nigeria. REFERENCES: Parsa A, Kao WHL, Xie D,...

Art of Medicine: Collapsing Glomerulopathy

Collapsing Glomerulopathy
The above painting shows a glomerulus with capillary tuft collapse, visceral epithelial cell hyperplasia, and numerous protein resorption droplets within Bowman’s space; findings that can be seen in collapsing glomerulopathy.  A PAS stain from a case of collapsing glomerulopathy is also shown in the photomicrograph below.  Initially, collapsing glomerulopathy was considered a severe form of focal segmental glomerulosclerosis and placed into the Columbia classification. According to the Columbia classification, collapse of at least one capillary loop with obliteration of the lumen and proliferation and hypertrophy of overlying podocytes is sufficient for a diagnosis of the collapsing glomerulopathy.  Tubulointerstitial damage is...

Art of Medicine: Lupus Nephritis Genetics

Lupus Nephritis Genetics
The above painting shows an image of a sequencing gel, which are produced by DNA synthesis in the presence of sequence terminators such as dideoxyribonucleotides (that are mixed with deoxyribonucleotides used for chain elongation), with the DNA fragments run on an agarose gel. The agarose gels are then imaged using a DNA intercalator, such as ethidium bromide, that allows the DNA fragments to fluoresce in the ultraviolet spectrum. This is the basis of Sanger sequencing. Advances to Sanger sequencing included use of fluorescent labeled chain terminators, which allowed for a higher throughput readout and faster results. These could also be...

APOL1: Why Is It Important?

APOL1 gene, Arkana Laboratories, renal pathology research
I have been working at Arkana Laboratories (formerly Nephropath) for close to seven years as the Molecular Diagnostics Laboratory Supervisor. One of my first projects here was to isolate DNA from formalin-fixed, paraffin-embedded tissue and get an assay set up to determine variants in the APOL1 gene. At that time, these variants were recently discovered and there was great excitement in the scientific community as to their role in kidney disease, especially in African Americans, which is the population with the highest frequency of these gene variants in America. Our project involved the role of these variants in collapsing glomerulopathy...

Twitter Poll (April 17, 2019)

Collapsing Glomerulopathy, APOL1, arkana laboratories, kidney disease, renal pathology
ANSWER: D Collapsing glomerulopathy has been associated with certain infectious disease including HIV, Hepatitis C, HTLV-1, parvovirus B19, cytomegalovirus, tuberculosis, Campylobacter enteritis, and Loa loa filariasis. References: Cossey LN, Larsen CP, Liapis H. Collapsing glomerulopathy: a 30-year perspective and single, large center experience. Clin Kidney J 2017; 10(4):443-449 Cohen AH, Nast CC. HIV-associated nephropathy. A unique combined glomerular, tubular, and interstitial lesion. Mod Pathol 1988; 1: 87–97 D’Agati V, Suh JI, Carbone L, et al. Pathology of HIV-associated nephropathy: a detailed morphologic and comparative study. Kidney Int 1989; 35: 1358–1370 Pakasa NM, Nseka NM, Nyimi LM. Secondary collapsing glomerulopathy associated...