A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome

2021 ◽  
Author(s):  
Nur Canpolat ◽  
Dingxiao Liu ◽  
Emine Atayar ◽  
Seha Saygili ◽  
Nazli Sila Kara ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hemolytic Uremic Syndrome ◽  
Splice Site ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Uremic Syndrome

scholarly journals Cognitive deficits found in a pro-inflammatory state are independent of ERK 1/2 signaling in the murine brain hippocampus treated with Shiga toxin 2 from enterohemorrhagic Escherichia Coli

2020 ◽  
Author(s):  
Clara Berdasco ◽  
Alipio Pinto ◽  
Mariano Blake ◽  
Fernando Correa ◽  
Nadia A. Longo Carbajosa ◽  
...  
Keyword(s):  
Escherichia Coli ◽  
Central Nervous System ◽  
Nervous System ◽  
Hemolytic Uremic Syndrome ◽  
Signaling Pathway ◽  
Shiga Toxin ◽  
Enterohemorrhagic Escherichia Coli ◽  
Shiga Toxin 2 ◽  
Uremic Syndrome ◽  
The Brain

AbstractShiga toxin 2 (Stx2) from enterohemorrhagic Escherichia coli (EHEC) produces hemorrhagic colitis, hemolytic uremic syndrome (HUS) and acute encephalopathy. The mortality rate in HUS increases significantly when the central nervous system (CNS) is involved. Besides, EHEC also releases lipopolysaccharide (LPS). Many reports have described cognitive dysfunctions in HUS patients, the hippocampus being one of the brain areas targeted by EHEC infection. In this context, a translational murine model of encephalopathy was employed to establish the deleterious effects of Stx2 and the contribution of LPS in the hippocampus. Results demonstrate that systemic administration of a sublethal dose of Stx2 reduced memory index and produced depression like behavior, pro-inflammatory cytokine release and NF-kB activation independent of the ERK 1/2 signaling pathway. On the other hand, LPS activated NF-kB dependent on ERK 1/2 signaling pathway. Cotreatment of Stx2 with LPS aggravated the pathologic state, while dexamethasone treatment succeeded in preventing behavioral alterations. Our present work suggests that the use of drugs such as corticosteroids or NF-kB signaling inhibitors may serve as neuroprotectors from EHEC infection.Author SummaryShiga toxin (Stx) from enterohemorrhagic Escherichia coli (EHEC) is one of the most virulent factors responsible for hemolytic uremic syndrome (HUS). Stx2, the endemic variant targets the brain, among other organs, thus inducing encephalopathies. Central nervous system (CNS) compromise was the main predictor of death in patients with HUS. Stx2 may exert a direct action in the CNS, by disrupting the neurovascular unit. In this context, we investigate the molecular signaling triggered by Stx2 in the murine brain hippocampus involved in inflammatory mechanisms that altered hippocampal-related cognitive behaviors. The present data underscore that the use of drugs such as dexamethasone or those blocking the cascade by preventing NF-kB translocation to the nucleus may serve as effective neuroprotectors with potentially beneficial use in the clinic.

Central nervous system involvement in a child with hemolytic uremic syndrome

2000 ◽  
Vol 14 (10-11) ◽  
pp. 990-992 ◽  
Author(s):  
E. Signorini ◽  
S. Lucchi ◽  
M. Mastrangelo ◽  
S. Rapuzzi ◽  
A. Edefonti ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hemolytic Uremic Syndrome ◽  
Central Nervous System Involvement ◽  
System Involvement ◽  
Uremic Syndrome

Reversal of Central Nervous System Involvement in Hemolytic Uremic Syndrome by Use of Plasma Exchanges

1987 ◽  
Vol 26 (12) ◽  
pp. 651-656 ◽  
Author(s):  
Kumudchandra J. Sheth ◽  
Heinz E. Leichter ◽  
Joan C. Gill ◽  
Anne Baumgardt
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hemolytic Uremic Syndrome ◽  
Central Nervous System Involvement ◽  
System Involvement ◽  
Uremic Syndrome

Risk Factors for the Central Nervous System Manifestations of Gastroenteritis-Associated Hemolytic-Uremic Syndrome

PEDIATRICS ◽  
1992 ◽  
Vol 90 (4) ◽  
pp. 616-621
Author(s):  
Nevio Cimolai ◽  
Brenda J. Morrison ◽  
James E. Carter
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hemolytic Uremic Syndrome ◽  
Female Gender ◽  
Multiple Organ ◽  
Increased Risk ◽  
Escherichia Coli Infection ◽  
Uremic Syndrome ◽  
The Central Nervous System ◽  
Laboratory Variables

Hemolytic-uremic syndrome is usually a consequence of enteric verotoxigenic Escherichia coli infection, and a prevailing hypothesis contends that systemically absorbed verotoxins are responsible for the multiple organ involvement. In an attempt to determine whether the central nervous system (CNS) manifestations could occur owing to factors that reflect a toxin insult, the authors studied the association of clinical and laboratory variables with the development of neurological disease. Ninety-one patients with hemolytic-uremic syndrome from 1982 through 1990 were included. Twenty-seven (18 female, 9 male) had a CNS disorder; 17 of these had seizures and there were two deaths. Multivariate analyses led to the following observations: female gender (odds ratio [OR] 8.50; 95% confidence interval [CI] 2.08 to 50.0), prolonged use of an antimotility pharmacological agent (OR 8.50; 95% CI 1.69 to 42.81), and an increased hemoglobin level (OR 1.11; 95% CI 1.05 to 1.17) were associated with an increased risk for developing a neurological manifestation. Prior administration of a blood product was associated with a decreased risk (OR 0.12; 95% CI 0.02 to 0.52). The findings suggest that other mechanisms for CNS disease may exist in addition to direct toxin insult.

scholarly journals Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome

2019 ◽  
Vol 10 ◽  
Author(s):  
Ria Schönauer ◽  
Anna Seidel ◽  
Maik Grohmann ◽  
Tom H. Lindner ◽  
Carsten Bergmann ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Splice Site ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Uremic Syndrome ◽  
Splice Site Variant
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