Results 51 to 60 of about 23,164 (223)
This article presents two clinical cases of patients with a homozygous deletion of segment of chromosome 1, which covers regions of genes associated with complement factor H, in particular CFHR3.
I. A. Tuzankina +5 more
doaj +1 more source
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri +26 more
wiley +1 more source
Background Atypical hemolytic uremic syndrome is a rare group of disorders that have in common underlying complement amplifying conditions. These conditions can accelerate complement activation that results in a positive feedback cycle.
Ramy M. Hanna +8 more
doaj +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Compartment‐Specific Immune Remodeling of Renal Aging With C1q‐Associated Podocyte Activation
Aging repatterns the renal immune response in a compartment‐specific manner, distinct from chronic kidney disease (CKD) adaptation. Glomerular aging features C1q‐associated podocyte activation and macrophage engagement, whereas tubulointerstitial aging is marked by B‐cell aggregation and tertiary lymphoid structure expansion.
Ju‐Young Moon +10 more
wiley +1 more source
Primary Thrombotic Microangiopathy in Pediatric Patients
Background . Primary thrombotic microangiopathy includes hemolytic uremic syndrome caused by Shiga toxin-producing Escherichia coli , atypical hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura. Methodology .
Andrés David Aranzazu Ceballos MD +5 more
doaj +1 more source
Clostridium septicum Infection and Hemolytic Uremic Syndrome
Five cases of Clostridium septicum infection secondary to Escherichia coli O157induced hemolytic uremic syndrome have been reported. We report on three cases (one of which is included in the above five) of dual Cl. septicum and E.
M. Barnham, N. Weightman
doaj +1 more source
The Complement System in Post‐Transplant Kidney Injury
Organ Medicine, EarlyView.
Mengsi Hu
wiley +1 more source
ABSTRACT Catastrophic antiphospholipid syndrome (CAPS) is a fulminant and rare variant of antiphospholipid syndrome characterized by rapidly progressive multiorgan thrombosis and a high mortality rate. Its diagnosis is often challenging due to overlapping clinical features with sepsis, thromboembolic disorders, and systemic autoimmune diseases.
Nazmin Ahmed +4 more
wiley +1 more source
Thrombotic Thrombocytopenic Purpura, Moschcowitz Syndrome
The authors present a case of a 16-year-old boy, who was referred to the hospital due to thrombocytopenia, anemia, proteinuria and hyperbilirubinemia. Based on the clinical picture and the laboratory data, thrombotic thrombocytopenic purpura (TTP) was ...
Czinyéri, Judit +4 more
core

