8 research outputs found
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Multicenter Clinicopathologic Correlation of Kidney Biopsies Performed in COVID-19 Patients Presenting With Acute Kidney Injury or Proteinuria.
RATIONALE AND OBJECTIVE: Kidney biopsy data inform us about pathologic processes associated with SARS CoV-2 infection. We conducted a multi-center evaluation of kidney biopsy findings in living patients to identify various kidney disease pathology in patients with COVID-19 and their association with SARS-CoV-2 infection.
STUDY DESIGN: Case series.
SETTING AND PARTICIPANTS: We identified 14 native and 3 transplant kidney biopsies performed for-cause in patients with documented recent or concurrent COVID-19 infection treated at 7 large hospital systems in the United States.
OBSERVATIONS: Males and females were equally represented in our study cohort, with a higher proportion of Black (n=8) and Hispanic (n=5) patients. All 17 patients had RT-PCR confirmed COVID-19 infection, but only 3 presented with severe COVID-19 symptoms. Acute kidney injury (AKI; n=15) and proteinuria (n=11) were the most common indications for biopsy and these symptoms developed concurrently or within 1 week of COVID-19 symptoms in all patients. Acute tubular injury (n=14), collapsing glomerulopathy (n=7) and endothelial injury/thrombotic microangiopathy (n=6) were the most common histologic findings. Two of the three transplant patients developed active antibody-mediated rejection weeks after COVID-19 infection. Eight patients required dialysis, but others improved with conservative management.
LIMITATIONS: Small study size and short clinical follow up.
CONCLUSIONS: Cases of even symptomatically mild COVID-19 infection were accompanied by AKI and/or heavy proteinuria that prompted a diagnostic kidney biopsy. While acute tubular injury was seen among the majority of them, uncommon pathology such as collapsing glomerulopathy and acute endothelial injury were detected, and most of these patients progressed to irreversible kidney injury and dialysis
Disruption of Neurexin 1 Associated with Autism Spectrum Disorder
Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display an autism spectrum disorder (ASD) in association with a balanced chromosomal abnormality involving 2p16.3. In the first, with karyotype 46,XX,ins(16;2)(q22.1;p16.1p16.3)pat, NRXN1 is directly disrupted within intron 5. Importantly, the father possesses the same chromosomal abnormality in the absence of ASD, indicating that the interruption of α-NRXN1 is not fully penetrant and must interact with other factors to produce ASD. The breakpoint in the second subject, with 46,XY,t(1;2)(q31.3;p16.3)dn, occurs ∼750 kb 5′ to NRXN1 within a 2.6 Mb genomic segment that harbors no currently annotated genes. A scan of the NRXN1 coding sequence in a cohort of ASD subjects, relative to non-ASD controls, revealed that amino acid alterations in neurexin 1 are not present at high frequency in ASD. However, a number of rare sequence variants in the coding region, including two missense changes in conserved residues of the α-neurexin 1 leader sequence and of an epidermal growth factor (EGF)-like domain, respectively, suggest that even subtle changes in NRXN1 might contribute to susceptibility to ASD