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Laboratory characterization of the pediatric B/T subtype of mixed-phenotype acute leukemia: Report of a case series.
Am J Clin Pathol
August 2024
Dmitry Rogachev National Research and Clinical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation.
Objectives: Mixed-phenotype acute leukemia (MPAL) is a rare disease associated with difficulties in the correct lineage assignment of leukemic cells. One of the least common subtypes within this category is characterized by the simultaneous presence of B- and T-lineage-defining antigens. Each case of suspected B/T MPAL should be considered in light of all available laboratory and clinical data to avoid misdiagnosis.
View Article and Find Full Text PDFHereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy.
Front Neurol
October 2023
Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Amyloidoses represent a group of diseases characterized by the pathological accumulation in the extracellular area of insoluble misfolded protein material called "amyloid". The damage to the tissue organization and the direct toxicity of the amyloidogenic substrates induce progressive dysfunctions in the organs involved. They are usually multisystem diseases involving several vital organs, such as the peripheral nerves, heart, kidneys, gastrointestinal tract, liver, skin, and eyes.
View Article and Find Full Text PDFBiallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.
Am J Med Genet C Semin Med Genet
March 2022
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Monogenic disorders of the kidney typically affect either the glomerular or tubulointerstitial compartment producing a distinct set of clinical phenotypes. Primary focal segmental glomerulosclerosis (FSGS), for instance, is characterized by glomerular scarring with proteinuria and hypertension while nephronophthisis (NPHP) is associated with interstitial fibrosis and tubular atrophy, salt wasting, and low- to normal blood pressure. For both diseases, an expanding number of non-overlapping genes with roles in glomerular filtration or primary cilium homeostasis, respectively, have been identified.
View Article and Find Full Text PDFLongitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the gene.
Ophthalmic Genet
October 2021
Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
Article Synopsis
- Late-onset retinal degeneration (L-ORD) is a rare genetic eye disease caused by a specific gene variant, primarily affecting patients aged 21-81, with visual function typically declining after age 55.
- Findings in L-ORD include diverse initial retinal appearances, such as atrophic patches and subretinal dots, but most patients eventually progress to a similar severe retinal condition after 65 years.
- Despite variations in presentation, there is notable intrafamilial variability in disease progression and visual potential, with some patients maintaining fair vision until their 70s.
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