Authors’ Reply to Verdelli et al.: There Is No Knowledge Without Experience

Ingegnoli, Francesca; Tourlaki, Athanasia; Gualtierotti, Roberta

doi:10.1007/s40261-014-0201-6

Cited by 2 publications

(1 citation statement)

References 3 publications

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“…NVC may discover the "Early" pattern of microangiopathy, monitor its progression, inform on disease status, and also predict future organ involvement. NVC has been proposed as possible biomarker in SSc, correlating the capillary damage extent with the internal organ involvement (1)(2)(3). SSc patients show pathognomonic capillary abnormalities, which characterize the scleroderma-pattern of microangiopathy (2,4,5).…”

Section: Carmona Instituto De Salud Musculoesquelética Madrid Smentioning

confidence: 99%

SP0025 Complement Deficiencies and Rheumatic Diseases

Trouw

2016

Ann Rheum Dis

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The complement system is an integral part of both the innate and adaptive immune responses. Although a wealth of insight into the function of the different complement proteins has been obtained by biochemical studies, real insight into the overall role of complement and specific complement proteins has been obtained by studying the rare cases of complete genetic deficiency observed in the human population. The detailed analyses of the clinical manifestations of persons genetically deficient for complement proteins identified some obvious aspects, but also several rather remarkable ones. For example the genetic deficiency of circulating C3 led to increased risk for several types of bacterial infections, but deficiency in C9, an essential component of the membrane attack complex (MAC) required for lysis did only predispose to one particular type of infections; with Neisseria. These data indicate that complement is involved in the immune defence against infections via C3, but that lysis by the MAC is except for Neisseria not so relevant.One other remarkable observations was the association between genetic deficiency for classical pathway complement proteins with autoimmunity, especially systemic lupus erythematosus (SLE). Sspecially striking is the observation that there is a hierarchy, within the pathway, with C1q being the strongest associated with SLE, followed by C4 and C2 with almost no association with C3 deficiency. How deficiency of classical pathway proteins contributes is not yet clear but seems to be the result of an interplay between decreased clearance of dead cells and an altered adaptive immune activation threshold.Recently we identified a new case of complete C1q deficiency and this child did not display signs of SLE (yet). We were struck by the absence of reports on follow-up data of the cases with reported C1q deficiency and conducted a questionnaire based study. From this study we could conclude that there is enormous variation in the severity of clinical symptoms between persons, with some being very affected leading to premature death and other individuals, sometimes from the same family, seemingly completely unaffected. These findings are relevant also in view of the developments of therapy as now haematopoietic stem cell transplantation (HSCT) has become a feasible option to treat such individuals. In this context we argue for a well-balanced evaluation of the pro's and con's of such treatment modalities in view of the variation in clinical symptoms and severity observed in these individuals.Disclosure of InterestNone declared

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Section: Carmona Instituto De Salud Musculoesquelética Madrid Smentioning

confidence: 99%

SP0025 Complement Deficiencies and Rheumatic Diseases

Trouw

2016

Ann Rheum Dis

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Study of heme and globin conformation in fractionated rat erythrocytes by means of raman spectroscopy

Yushkov,

Zuev,

Brilliant

et al. 2023

Biofizika

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Conformational changes of heme and globin in fractionated rat erythrocytes have been investigated using Raman spectroscopy. The results obtained show that normal isoforms (common variants) of hemoglobin, which plays a key role in oxygen transport and a protective role against oxidative stress, are dominant (more than 80%) in rat blood. However, heavy chain (3%) and light chain isoforms (11%) formed as a result of protein polymerization or degradation perform important roles in the body because they also function in signal transmission and binding to exogenous ligands.

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Authors’ Reply to Verdelli et al.: There Is No Knowledge Without Experience

Cited by 2 publications

References 3 publications

SP0025 Complement Deficiencies and Rheumatic Diseases

SP0025 Complement Deficiencies and Rheumatic Diseases

Study of heme and globin conformation in fractionated rat erythrocytes by means of raman spectroscopy

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