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Article ; Online: Mycoplasma pneumoniae Infection Associated with Anti-Factor H Autoantibodies in Atypical Hemolytic Uremic Syndrome.

Valoti, Elisabetta / Piras, Rossella / Mele, Caterina / Alberti, Marta / Liguori, Lucia / Breno, Matteo / Bertulli, Cristina / Bresin, Elena / Donadelli, Roberta

Nephron

2022 Volume 146, Issue 6, Page(s) 593–598

Abstract: Hemolytic uremic syndrome (HUS) is a rare disease characterized by hemolytic anemia, thrombocytopenia, and renal impairment mostly triggered by strains of Shiga-like toxin-producing Escherichia coli (STEC-HUS). A rarer form of HUS, defined as atypical ... ...

Abstract	Hemolytic uremic syndrome (HUS) is a rare disease characterized by hemolytic anemia, thrombocytopenia, and renal impairment mostly triggered by strains of Shiga-like toxin-producing Escherichia coli (STEC-HUS). A rarer form of HUS, defined as atypical HUS (aHUS), is associated with genetic or acquired dysregulation of the alternative pathway of the complement system and presents a poorer prognosis than STEC-HUS. Factor H autoantibodies (anti-FHs) have been reported in aHUS in 5-11% of cases and are strongly associated with the homozygous deletion of CFHR3-CFHR1 genes. In the large majority of patients, anti-FH-associated aHUS is commonly preceded by gastrointestinal or respiratory tract infections. Here, we described the clinical case of a 3-year-old boy who was hospitalized for aHUS preceded by Mycoplasma pneumoniae (MP) infection. He resulted positive for anti-FHs and carried the homozygous deletion of CFHR3-CFHR1. Of relevance, he also showed a variant of unknown significance in the C5 gene. The patient was successfully treated with eculizumab and achieved hematological and renal remission. The anti-FH titer decreased, became negative after 6 months of mycophenolate mofetil (MMF) treatment, and remained negative for 21-month follow-up indicating that immunosuppression was effective and could prevent the reappearance of anti-FHs. We hypothesized that MP, likely through an evasion strategy of immunosurveillance based on binding of pathogen to FH, triggers anti-FH antibody generation and aHUS in a subject genetically predisposed. In conclusion, to the best of our knowledge, here, we reported the first case of anti-FH-mediated aHUS after an MP infection who benefited from eculizumab and immunosuppressive therapy based on MMF. Hence, monitoring of anti-FHs in patients with post-MP infection glomerulonephritis could be recommended, especially in those with low C3 plasma levels.
MeSH term(s)	Humans ; Child, Preschool ; Atypical Hemolytic Uremic Syndrome ; Autoantibodies ; Pneumonia, Mycoplasma ; Homozygote ; Sequence Deletion
Chemical Substances	Autoantibodies
Language	English
Publishing date	2022-04-11
Publishing country	Switzerland
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	207121-6
ISSN	2235-3186 ; 1423-0186 ; 1660-8151 ; 0028-2766
ISSN (online)	2235-3186 ; 1423-0186
ISSN	1660-8151 ; 0028-2766
DOI	10.1159/000523998
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Article ; Online: CFH

Piras, Rossella / Valoti, Elisabetta / Alberti, Marta / Bresin, Elena / Mele, Caterina / Breno, Matteo / Liguori, Lucia / Donadelli, Roberta / Rigoldi, Miriam / Benigni, Ariela / Remuzzi, Giuseppe / Noris, Marina

Frontiers in immunology

2023 Volume 13, Page(s) 1011580

Abstract: Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disease that manifests with microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure, and is associated with dysregulation of the alternative complement pathway. The ... ...

Abstract	Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disease that manifests with microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure, and is associated with dysregulation of the alternative complement pathway. The chromosomal region including Methods: In this study, we report the results of Results: We found uncommon SVs in 8% of patients with primary aHUS: 70% carried rearrangements involving Discussion: In conclusion, these data highlight that uncommon
MeSH term(s)	Humans ; Atypical Hemolytic Uremic Syndrome/epidemiology ; Atypical Hemolytic Uremic Syndrome/genetics ; Atypical Hemolytic Uremic Syndrome/drug therapy ; Complement Factor H/genetics ; Prevalence ; DNA Copy Number Variations ; Neoplasm Recurrence, Local ; Genomics
Chemical Substances	Complement Factor H (80295-65-4)
Language	English
Publishing date	2023-01-30
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2022.1011580
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Article ; Online: An

Gastoldi, Sara / Aiello, Sistiana / Galbusera, Miriam / Breno, Matteo / Alberti, Marta / Bresin, Elena / Mele, Caterina / Piras, Rossella / Liguori, Lucia / Santarsiero, Donata / Benigni, Ariela / Remuzzi, Giuseppe / Noris, Marina

Frontiers in immunology

2023 Volume 14, Page(s) 1112257

Abstract: Introduction: Comprehensive genetic analysis is essential to clinical care of patients with atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment. However, the characterization of complement gene variants remains ... ...

Abstract	Introduction: Comprehensive genetic analysis is essential to clinical care of patients with atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment. However, the characterization of complement gene variants remains challenging owing to the complexity of functional studies with mutant proteins. This study was designed: 1) To identify a tool for rapid functional determination of complement gene variants; 2) To uncover inherited complement dysregulation in aHUS patients who do not carry identified gene variants. Methods: To address the above goals, we employed an ex-vivo assay of serum-induced C5b-9 formation on ADP-activated endothelial cells in 223 subjects from 60 aHUS pedigrees (66 patients and 157 unaffected relatives). Results: Sera taken from all aHUS patients in remission induced more C5b-9 deposition than control sera, independently from the presence of complement gene abnormalities. To avoid the possible confounding effects of chronic complement dysregulation related to aHUS status, and considering the incomplete penetrance for all aHUS-associated genes, we used serum from unaffected relatives. In control studies, 92.7% of unaffected relatives with known pathogenic variants exhibited positive serum-induced C5b-9 formation test, documenting a high sensitivity of the assay to identify functional variants. The test was also specific, indeed it was negative in all non-carrier relatives and in relatives with variants non-segregating with aHUS. All but one variants in aHUS-associated genes predicted in-silico as likely pathogenic or of uncertain significance (VUS) or likely benign resulted as pathogenic in the C5b-9 assay. At variance, variants in putative candidate genes did not exhibit a functional effect, with the exception of a Discussion: In conclusion, the serum-induced C5b-9 formation test in unaffected relatives of aHUS patients may be a tool for rapid functional evaluation of rare complement gene variants. When combined with exome sequencing the assay might be of help in variant selection, to identify new aHUS-associated genetic factors.
MeSH term(s)	Humans ; Complement Membrane Attack Complex/genetics ; Complement Membrane Attack Complex/metabolism ; Endothelial Cells/metabolism ; Atypical Hemolytic Uremic Syndrome/diagnosis ; Atypical Hemolytic Uremic Syndrome/genetics ; Complement System Proteins/genetics ; Complement System Proteins/therapeutic use ; Pedigree
Chemical Substances	Complement Membrane Attack Complex ; Complement System Proteins (9007-36-7)
Language	English
Publishing date	2023-02-09
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2023.1112257
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Article: CFH

Piras, Rossella / Breno, Matteo / Valoti, Elisabetta / Alberti, Marta / Iatropoulos, Paraskevas / Mele, Caterina / Bresin, Elena / Donadelli, Roberta / Cuccarolo, Paola / Smith, Richard J H / Benigni, Ariela / Remuzzi, Giuseppe / Noris, Marina

Frontiers in genetics

2021 Volume 12, Page(s) 670727

Abstract: C3 Glomerulopathy (C3G) and Immune Complex-Mediated Membranoproliferative glomerulonephritis (IC-MPGN) are rare diseases characterized by glomerular deposition of C3 caused by dysregulation of the alternative pathway (AP) of complement. In approximately ... ...

Abstract	C3 Glomerulopathy (C3G) and Immune Complex-Mediated Membranoproliferative glomerulonephritis (IC-MPGN) are rare diseases characterized by glomerular deposition of C3 caused by dysregulation of the alternative pathway (AP) of complement. In approximately 20% of affected patients, dysregulation is driven by pathogenic variants in the two components of the AP C3 convertase, complement C3 (
Language	English
Publishing date	2021-06-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2021.670727
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Article ; Online: (with research data) Heritabilities of directional asymmetry in the fore- and hindlimbs of rabbit fetuses.

Breno, Matteo / Bots, Jessica / Van Dongen, Stefan

PloS one

2013 Volume 8, Issue 10, Page(s) e76358

Abstract: Directional asymmetry (DA), where at the population level symmetry differs from zero, has been reported in a wide range of traits and taxa, even for traits in which symmetry is expected to be the target of selection such as limbs or wings. In ... ...

Abstract	Directional asymmetry (DA), where at the population level symmetry differs from zero, has been reported in a wide range of traits and taxa, even for traits in which symmetry is expected to be the target of selection such as limbs or wings. In invertebrates, DA has been suggested to be non-adaptive. In vertebrates, there has been a wealth of research linking morphological asymmetry to behavioural lateralisation. On the other hand, the prenatal expression of DA and evidences for quantitative genetic variation for asymmetry may suggest it is not solely induced by differences in mechanic loading between sides. We estimate quantitative genetic variation of fetal limb asymmetry in a large dataset of rabbits. Our results showed a low but highly significant level of DA that is partially under genetic control for all traits, with forelimbs displaying higher levels of asymmetry. Genetic correlations were positive within limbs, but negative across bones of fore and hind limbs. Environmental correlations were positive for all, but smaller across fore and hind limbs. We discuss our results in light of the existence and maintenance of DA in locomotory traits.
MeSH term(s)	Animals ; Bone and Bones/embryology ; Female ; Fetus/anatomy & histology ; Fetus/embryology ; Forelimb/embryology ; Forelimb/physiology ; Functional Laterality/genetics ; Genetic Variation ; Hindlimb/embryology ; Hindlimb/physiology ; Humans ; Inheritance Patterns ; Mice ; Phenotype ; Pregnancy ; Rabbits
Language	English
Publishing date	2013-10-10
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0076358
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Article: Unravelling the Role of PAX2 Mutation in Human Focal Segmental Glomerulosclerosis.

Longaretti, Lorena / Trionfini, Piera / Brizi, Valerio / Xinaris, Christodoulos / Mele, Caterina / Breno, Matteo / Romano, Elena / Giampietro, Roberta / Remuzzi, Giuseppe / Benigni, Ariela / Tomasoni, Susanna

Biomedicines

2021 Volume 9, Issue 12

Abstract: No effective treatments are available for familial steroid-resistant Focal Segmental Glomerulosclerosis (FSGS), characterized by proteinuria due to ultrastructural abnormalities in glomerular podocytes. Here, we studied a private PAX2 mutation identified ...

Abstract	No effective treatments are available for familial steroid-resistant Focal Segmental Glomerulosclerosis (FSGS), characterized by proteinuria due to ultrastructural abnormalities in glomerular podocytes. Here, we studied a private PAX2 mutation identified in a patient who developed FSGS in adulthood. By generating adult podocytes using patient-specific induced pluripotent stem cells (iPSC), we developed an in vitro model to dissect the role of this mutation in the onset of FSGS. Despite the PAX2 mutation, patient iPSC properly differentiated into podocytes that exhibited a normal structure and function when compared to control podocytes. However, when exposed to an environmental trigger, patient podocytes were less viable and more susceptible to cell injury. Fixing the mutation improved their phenotype and functionality. Using a branching morphogenesis assay, we documented developmental defects in patient-derived ureteric bud-like tubules that were totally rescued by fixing the mutation. These data strongly support the hypothesis that the PAX2 mutation has a dual effect, first in renal organogenesis, which could account for a suboptimal nephron number at birth, and second in adult podocytes, which are more susceptible to cell death caused by environmental triggers. These abnormalities might translate into the development of proteinuria in vivo, with a progressive decline in renal function, leading to FSGS.
Language	English
Publishing date	2021-12-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines9121808
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Article ; Online: A GWAS in the pandemic epicenter highlights the severe COVID-19 risk locus introgressed by Neanderthals.

iScience

2023 Volume 26, Issue 10, Page(s) 107629

Abstract: Large GWAS indicated that genetic factors influence the response to SARS-CoV-2. However, sex, age, concomitant diseases, differences in ancestry, and uneven exposure to the virus impacted the interpretation of data. We aimed to perform a GWAS of COVID-19 ...

Abstract	Large GWAS indicated that genetic factors influence the response to SARS-CoV-2. However, sex, age, concomitant diseases, differences in ancestry, and uneven exposure to the virus impacted the interpretation of data. We aimed to perform a GWAS of COVID-19 outcome in a homogeneous population who experienced a high exposure to the virus and with a known infection status. We recruited inhabitants of Bergamo province-that in spring 2020 was the epicenter of the SARS-Cov-2 pandemic in Europe-via an online questionnaire followed by personal interviews. Cases and controls were matched by age, sex and risk factors. We genotyped 1195 individuals and replicated the association at the 3p21.31 locus with severity, but with a stronger effect size that further increased in gravely ill patients. Transcriptome-wide association study highlighted eQTLs for
Language	English
Publishing date	2023-08-16
Publishing country	United States
Document type	Journal Article
ISSN	2589-0042
ISSN (online)	2589-0042
DOI	10.1016/j.isci.2023.107629
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Article: Relationship between canalization and developmental stability of foetal rabbit limbs in two reproductive toxicological experiments

Breno, Matteo / Jessica Bots / Stefan Van Dongen

Biological journal of the Linnean Society. 2013 June, v. 109, no. 2

2013

Abstract: The mechanisms of developmental buffering and its relevance to the evolutionary process have recently attracted a lot of attention in both developmental and evolutionary biology. Among other things, whether the two components of developmental buffering [ ... ...

Abstract	The mechanisms of developmental buffering and its relevance to the evolutionary process have recently attracted a lot of attention in both developmental and evolutionary biology. Among other things, whether the two components of developmental buffering [i.e. canalization and developmental stability (DS)] have a common basis has long been the subject of debate. In the present study, we examine the association between fluctuating asymmetry (i.e. the directionally random asymmetry of bilateral structures), a measure of DS, and betweenâindividual variation of long bones in over 1000 rabbit foetuses. The lack of correlations between fluctuating asymmetry and betweenâindividual variation at the individual, litter and treatment level, in combination with the absence of correspondence among covariance matrices, supports distinct developmental mechanisms for DS and canalization. We discuss our results in the context of recent insights into the mechanisms of developmental buffering.âÂ© 2013 The Linnean Society of London, Biological Journal of the Linnean Society, 2013, 109, 434â440.
Keywords	asymmetry ; bones ; covariance ; fetus ; rabbits
Language	English
Dates of publication	2013-06
Size	p. 434-440.
Publishing place	John Wiley & Sons, Ltd
Document type	Article
Note	JOURNAL ARTICLE
ZDB-ID	1461865-5
ISSN	1095-8312 ; 0024-4066
ISSN (online)	1095-8312
ISSN	0024-4066
DOI	10.1111/bij.12058
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: A novel method to reduce time investment when processing videos from camera trap studies.

Swinnen, Kristijn R R / Reijniers, Jonas / Breno, Matteo / Leirs, Herwig

PloS one

2014 Volume 9, Issue 2, Page(s) e98881

Abstract: Camera traps have proven very useful in ecological, conservation and behavioral research. Camera traps non-invasively record presence and behavior of animals in their natural environment. Since the introduction of digital cameras, large amounts of data ... ...

Abstract	Camera traps have proven very useful in ecological, conservation and behavioral research. Camera traps non-invasively record presence and behavior of animals in their natural environment. Since the introduction of digital cameras, large amounts of data can be stored. Unfortunately, processing protocols did not evolve as fast as the technical capabilities of the cameras. We used camera traps to record videos of Eurasian beavers (Castor fiber). However, a large number of recordings did not contain the target species, but instead empty recordings or other species (together non-target recordings), making the removal of these recordings unacceptably time consuming. In this paper we propose a method to partially eliminate non-target recordings without having to watch the recordings, in order to reduce workload. Discrimination between recordings of target species and non-target recordings was based on detecting variation (changes in pixel values from frame to frame) in the recordings. Because of the size of the target species, we supposed that recordings with the target species contain on average much more movements than non-target recordings. Two different filter methods were tested and compared. We show that a partial discrimination can be made between target and non-target recordings based on variation in pixel values and that environmental conditions and filter methods influence the amount of non-target recordings that can be identified and discarded. By allowing a loss of 5% to 20% of recordings containing the target species, in ideal circumstances, 53% to 76% of non-target recordings can be identified and discarded. We conclude that adding an extra processing step in the camera trap protocol can result in large time savings. Since we are convinced that the use of camera traps will become increasingly important in the future, this filter method can benefit many researchers, using it in different contexts across the globe, on both videos and photographs.
MeSH term(s)	Animals ; Behavioral Research ; Environment ; Rodentia/physiology ; Video Recording/economics ; Video Recording/instrumentation
Language	English
Publishing date	2014-06-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0098881
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Article ; Research data: (with research data) No relationship between canalization and developmental stability of the skull in a natural population of Mastomys natalensis (Rodentia: Muridae)

BRENO, MATTEO / LEIRS, HERWIG / VAN DONGEN, STEFAN

Biological journal of the Linnean Society. 2011 Sept., v. 104, no. 1

2011

Abstract: The aim of the present work was to investigate the relationship between canalization and developmental stability under varying environmental conditions. Three different cohorts of Mastomys natalensis (Rodentia, Muridae), displaying different growth ... ...

Abstract	The aim of the present work was to investigate the relationship between canalization and developmental stability under varying environmental conditions. Three different cohorts of Mastomys natalensis (Rodentia, Muridae), displaying different growth trajectories, were analysed by means of geometric morphometrics. A set of 23 landmarks was digitalized on the dorsal skull of 292 specimens from Morogoro (Tanzania). Patterns of among‐ and within‐individual (measured as fluctuating asymmetry, FA) variation were assessed and compared among and within the three groups to test for the presence of a common mechanism between canalization and developmental stability. Results showed that there was no congruence between canalization and developmental stability: (1) levels of FA and among‐individual variation varied in a discordant fashion, (2) no correspondence between the variance–covariance matrix of among‐ and within individual variation was found, and (3) environmental effects were able to alter the covariance structure of among‐individual variation leaving patterns associated with fluctuating asymmetry unaffected. These findings support the view of multiple mechanisms underlying developmental buffering of shape variation. © 2011 The Linnean Society of London, Biological Journal of the Linnean Society, 2011, 104, 207–216.
Keywords	Mastomys natalensis ; covariance ; environmental factors ; environmental impact ; morphometry ; skull ; Tanzania
Language	English
Dates of publication	2011-09
Size	p. 207-216.
Publishing place	Blackwell Publishing Ltd
Document type	Article ; Research data
ZDB-ID	1461865-5
ISSN	1095-8312 ; 0024-4066 ; 0024-4066
ISSN (online)	1095-8312
ISSN	0024-4066
DOI	10.1111/j.1095-8312.2011.01702.x
Database	NAL-Catalogue (AGRICOLA)

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