Results 71 to 80 of about 131,131 (300)

Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia [PDF]

open access: yes, 1997
From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core  

Kidney Hematopoietic Stem and Progenitor Cells Contribute to Myeloid Development and Pathology in Lupus Nephritis

open access: yesArthritis &Rheumatology, EarlyView.
Objective The hematopoietic system maintains homeostasis by balancing myeloid and lymphoid cell production in the bone marrow (BM). In response to increased hematopoietic demand, extramedullary hematopoiesis (EMH) may occur in nonlymphoid organs. We investigated the role of EMH and kidney‐resident hematopoietic stem and progenitor cells (HSPCs) in ...
Hansol Yi   +9 more
wiley   +1 more source

Kidney: Hereditary Nephritis Alport's Syndrome

open access: yes, 1900
Hereditary Nephritis Alport's ...
MUSC Department of Pathology and Laboratory Medicine
core  

Increased Risk of Intrahepatic Cholestasis of Pregnancy in Women With Systemic Lupus Erythematosus Exposed to Azathioprine

open access: yesArthritis &Rheumatology, EarlyView.
Objective To evaluate the risk of intrahepatic cholestasis of pregnancy (ICP) in azathioprine (AZA)–exposed versus unexposed systemic lupus erythematosus (SLE) pregnancies within the multicenter prospective Lupus in Pregnancy (LEGACY) cohort. Methods LEGACY is conducted at Systemic Lupus International Collaborating Clinics in Canada, South Korea, Peru,
Reem Farhat   +14 more
wiley   +1 more source

T Cell Plasticity in Systemic Lupus Erythematosus Revealed by Large‐Scale T Cell Receptor Repertoire and Transcriptome Studies

open access: yesArthritis &Rheumatology, EarlyView.
Objective We aimed to characterize CD4+ T cell plasticity in human systemic lupus erythematosus (SLE) by leveraging T cell receptor (TCR) repertoire features as markers of prior lineage states, integrating TCR and transcriptomic profiling to delineate plasticity patterns and evaluate their association with clinical disease activity. Methods We used TCR
Yasuo Nagafuchi   +11 more
wiley   +1 more source

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy [PDF]

open access: yes, 2012
Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively ...
Baharak Hooshiar Kashani   +219 more
core   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

open access: yesArthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz   +13 more
wiley   +1 more source

Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease

open access: yesRenal Failure, 2017
Introduction: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane.
Yvelynne P. Kelly   +10 more
doaj   +1 more source

IgG Glycosylation‐Dependent CLEC7A Signaling Drives Podocyte Dysfunction in Lupus Nephritis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Lupus nephritis (LN) is a severe complication of systemic lupus erythematosus (SLE) that can lead to end‐stage kidney disease and increased mortality. IgG from patients with LN displays abnormal glycosylation, contributing to podocyte injury.
Rohit Upadhyay   +3 more
wiley   +1 more source

Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis [PDF]

open access: yes, 2002
Background: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A -chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential ...
Booth, D.R.   +7 more
core  

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