LIVIVO - Search results -

Search results

Result 1 - 10 of total 23

Search options

Article: What General Neurologists Should Know about Autoinflammatory Syndromes?

de Moraes, Marianna Pinheiro Moraes / do Nascimento, Renan Rodrigues Neves Ribeiro / Abrantes, Fabiano Ferreira / Pedroso, José Luiz / Perazzio, Sandro Félix / Barsottini, Orlando Graziani Povoas

Brain sciences

2023 Volume 13, Issue 9

Abstract: Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive ... ...

Abstract	Autoinflammatory disorders encompass a wide range of conditions with systemic and neurological symptoms, which can be acquired or inherited. These diseases are characterized by an abnormal response of the innate immune system, leading to an excessive inflammatory reaction. On the other hand, autoimmune diseases result from dysregulation of the adaptive immune response. Disease flares are characterized by systemic inflammation affecting the skin, muscles, joints, serosa, and eyes, accompanied by unexplained fever and elevated acute phase reactants. Autoinflammatory syndromes can present with various neurological manifestations, such as aseptic meningitis, meningoencephalitis, sensorineural hearing loss, and others. Early recognition of these manifestations by general neurologists can have a significant impact on the prognosis of patients. Timely and targeted therapy can prevent long-term disability by reducing chronic inflammation. This review provides an overview of recently reported neuroinflammatory phenotypes, with a specific focus on genetic factors, clinical manifestations, and treatment options. General neurologists should have a good understanding of these important diseases.
Language	English
Publishing date	2023-09-21
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2651993-8
ISSN	2076-3425
ISSN	2076-3425
DOI	10.3390/brainsci13091351
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Article ; Online: Hemophagocytic lymphohistiocytosis and macrophage activation syndrome: two rare sides of the same devastating coin.

Sztajnbok, Flavio / Fonseca, Adriana Rodrigues / Campos, Leonardo Rodrigues / Lino, Kátia / Rodrigues, Marta Cristine Félix / Silva, Rodrigo Moulin / de Almeida, Rozana Gasparello / Perazzio, Sandro Félix / Carvalho, Margarida de Fátima Fernandes

Advances in rheumatology (London, England)

2024 Volume 64, Issue 1, Page(s) 28

Abstract: Hemophagocytic lymphohistiocytosis (HLH) is a rare genetic hyperinflammatory syndrome that occurs early in life. Macrophage activation syndrome (MAS) usually refers to a secondary form of HLH associated with autoimmunity, although there are other causes ... ...

Abstract	Hemophagocytic lymphohistiocytosis (HLH) is a rare genetic hyperinflammatory syndrome that occurs early in life. Macrophage activation syndrome (MAS) usually refers to a secondary form of HLH associated with autoimmunity, although there are other causes of secondary HLH, such as infections and malignancy. In this article, we reviewed the concepts, epidemiology, clinical and laboratory features, diagnosis, differential diagnosis, prognosis, and treatment of HLH and MAS. We also reviewed the presence of MAS in the most common autoimmune diseases that affect children. Both are severe diseases that require prompt diagnosis and treatment to avoid morbidity and mortality.
MeSH term(s)	Child ; Humans ; Macrophage Activation Syndrome/diagnosis ; Macrophage Activation Syndrome/etiology ; Lymphohistiocytosis, Hemophagocytic/diagnosis ; Lymphohistiocytosis, Hemophagocytic/complications ; Autoimmune Diseases/complications ; Diagnosis, Differential
Language	English
Publishing date	2024-04-16
Publishing country	England
Document type	Journal Article ; Review
ISSN	2523-3106
ISSN (online)	2523-3106
DOI	10.1186/s42358-024-00370-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.

Quaio, Caio Robledo D' Angioli Costa / Moreira, Caroline Monaco / Chung, Christine Hsiaoyun / Perazzio, Sandro Felix / Dutra, Aurelio Pimenta / Kim, Chong Ae

Molecular biology reports

2022 Volume 49, Issue 5, Page(s) 3911–3918

Abstract: Background: Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal ... ...

Abstract	Background: Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal recessive metabolic diseases in a cohort of Brazilian patients that underwent molecular investigation with exome sequencing and estimate the overall frequency of these diseases using the Hardy-Weinberg equation. Methods and results: We reviewed the molecular findings of 320 symptomatic patients who had carrier status for recessive diseases actively searched. A total of 205 rare variants were reported in 138 different genes associated with metabolic diseases from 156 patients, which represents that almost half (48.8%) of the patients were carriers of at least one heterozygous pathogenic/likely pathogenic (P/LP) variant for rare metabolic disorders. Most of these variants are harbored by genes associated with multisystemic involvement. We estimated the overall frequency for rare recessive metabolic diseases to be 10.96/10,000 people, while the frequency of metabolic diseases potentially identified by newborn screening was estimated to be 2.93/10,000. Conclusions: This study shows the potential research utility of exome sequencing to determine carrier status for rare metabolic diseases, which may be a possible strategy to evaluate the clinical and social burden of these conditions at the population level and guide the optimization of health policies and newborn screening programs.
MeSH term(s)	Brazil/epidemiology ; Cohort Studies ; Heterozygote ; Humans ; Infant, Newborn ; Metabolic Diseases/epidemiology ; Metabolic Diseases/genetics ; Whole Exome Sequencing
Language	English
Publishing date	2022-02-28
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	186544-4
ISSN	1573-4978 ; 0301-4851
ISSN (online)	1573-4978
ISSN	0301-4851
DOI	10.1007/s11033-022-07241-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1140: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.

Quaio, Caio Robledo D'Angioli Costa / Moreira, Caroline Monaco / Chung, Christine Hsiaoyun / Perazzio, Sandro Felix / Dutra, Aurelio Pimenta / Kim, Chong Ae

Sao Paulo medical journal = Revista paulista de medicina

2022 Volume 140, Issue 5, Page(s) 734–736

MeSH term(s)	Brazil ; Exome ; Humans ; Rare Diseases/genetics ; Sequence Analysis, DNA
Language	English
Publishing date	2022-09-14
Publishing country	Brazil
Document type	Letter
ZDB-ID	1203171-9
ISSN	1806-9460 ; 1516-3180 ; 0035-0362
ISSN (online)	1806-9460
ISSN	1516-3180 ; 0035-0362
DOI	10.1590/1516-3180.2022.0076.R1.21072022
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 184: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Patient with agammaglobulinemia produces anti-SARS-CoV-2 reactive T-cells after CoronaVac vaccine.

Oshiro, Telma Miyuki / da Silva, Lais Teodoro / Ortega, Marina Mazzilli / Perazzio, Sandro Felix / Duarte, Alberto Jose da Silva / Carneiro-Sampaio, Magda

Clinics (Sao Paulo, Brazil)

2022 Volume 77, Page(s) 100007

MeSH term(s)	Agammaglobulinemia ; COVID-19 ; Humans ; SARS-CoV-2 ; T-Lymphocytes ; Vaccines
Chemical Substances	Vaccines
Language	English
Publishing date	2022-02-02
Publishing country	United States
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	2182801-5
ISSN	1980-5322 ; 1807-5932
ISSN (online)	1980-5322
ISSN	1807-5932
DOI	10.1016/j.clinsp.2022.100007
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 404: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients

Quaio, Caio Robledo D’ Angioli Costa / Moreira, Caroline Monaco / Chung, Christine Hsiaoyun / Perazzio, Sandro Felix / Dutra, Aurelio Pimenta / Kim, Chong Ae

Molecular biology reports. 2022 May, v. 49, no. 5

2022

Abstract: BACKGROUND: Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal ... ...

Abstract	BACKGROUND: Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal recessive metabolic diseases in a cohort of Brazilian patients that underwent molecular investigation with exome sequencing and estimate the overall frequency of these diseases using the Hardy–Weinberg equation. METHODS AND RESULTS: We reviewed the molecular findings of 320 symptomatic patients who had carrier status for recessive diseases actively searched. A total of 205 rare variants were reported in 138 different genes associated with metabolic diseases from 156 patients, which represents that almost half (48.8%) of the patients were carriers of at least one heterozygous pathogenic/likely pathogenic (P/LP) variant for rare metabolic disorders. Most of these variants are harbored by genes associated with multisystemic involvement. We estimated the overall frequency for rare recessive metabolic diseases to be 10.96/10,000 people, while the frequency of metabolic diseases potentially identified by newborn screening was estimated to be 2.93/10,000. CONCLUSIONS: This study shows the potential research utility of exome sequencing to determine carrier status for rare metabolic diseases, which may be a possible strategy to evaluate the clinical and social burden of these conditions at the population level and guide the optimization of health policies and newborn screening programs.
Keywords	carrier state ; equations ; heterozygosity ; molecular biology ; neonates ; people
Language	English
Dates of publication	2022-05
Size	p. 3911-3918.
Publishing place	Springer Netherlands
Document type	Article
ZDB-ID	186544-4
ISSN	1573-4978 ; 0301-4851
ISSN (online)	1573-4978
ISSN	0301-4851
DOI	10.1007/s11033-022-07241-3
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 78/728: Show issues

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Remodeling of the Immune Response With Aging: Immunosenescence and Its Potential Impact on COVID-19 Immune Response.

Cunha, Lucas Leite / Perazzio, Sandro Felix / Azzi, Jamil / Cravedi, Paolo / Riella, Leonardo Vidal

Frontiers in immunology

2020 Volume 11, Page(s) 1748

Abstract: Elderly individuals are the most susceptible to an aggressive form of coronavirus disease (COVID-19), caused by SARS-CoV-2. The remodeling of immune response that is observed among the elderly could explain, at least in part, the age gradient in ... ...

Abstract	Elderly individuals are the most susceptible to an aggressive form of coronavirus disease (COVID-19), caused by SARS-CoV-2. The remodeling of immune response that is observed among the elderly could explain, at least in part, the age gradient in lethality of COVID-19. In this review, we will discuss the phenomenon of immunosenescence, which entails changes that occur in both innate and adaptive immunity with aging. Furthermore, we will discuss inflamm-aging, a low-grade inflammatory state triggered by continuous antigenic stimulation, which may ultimately increase all-cause mortality. In general, the elderly are less capable of responding to neo-antigens, because of lower naïve T cell frequency. Furthermore, they have an expansion of memory T cells with a shrinkage of the T cell diversity repertoire. When infected by SARS-CoV-2, young people present with a milder disease as they frequently clear the virus through an efficient adaptive immune response. Indeed, antibody-secreting cells and follicular helper T cells are thought to be effectively activated in young patients that present a favorable prognosis. In contrast, the elderly are more prone to an uncontrolled activation of innate immune response that leads to cytokine release syndrome and tissue damage. The failure to trigger an effective adaptive immune response in combination with a higher pro-inflammatory tonus may explain why the elderly do not appropriately control viral replication and the potential clinical consequences triggered by a cytokine storm, endothelial injury, and disseminated organ injury. Enhancing the efficacy of the adaptive immune response may be an important issue both for infection resolution as well as for the appropriate generation of immunity upon vaccination, while inhibiting inflamm-aging will likely emerge as a potential complementary therapeutic approach in the management of patients with severe COVID-19.
MeSH term(s)	Adaptive Immunity ; Age Factors ; Animals ; Antibodies, Viral/blood ; Betacoronavirus/immunology ; CD8-Positive T-Lymphocytes/immunology ; COVID-19 ; Coronavirus Infections/epidemiology ; Coronavirus Infections/immunology ; Coronavirus Infections/virology ; Cytokines/immunology ; Cytokines/metabolism ; Humans ; Immunity, Innate ; Immunosenescence ; Inflammation/immunology ; Pandemics ; Plasma Cells/immunology ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/immunology ; Pneumonia, Viral/virology ; SARS-CoV-2 ; T-Lymphocytes, Helper-Inducer/immunology
Chemical Substances	Antibodies, Viral ; Cytokines
Keywords	covid19
Language	English
Publishing date	2020-08-07
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2020.01748
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.

Perazzio, Sandro Félix / Palmeira, Patricia / Moraes-Vasconcelos, Dewton / Rangel-Santos, Andréia / de Oliveira, João Bosco / Andrade, Luis Eduardo Coelho / Carneiro-Sampaio, Magda

Frontiers in immunology

2021 Volume 12, Page(s) 721289

Abstract: Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other ... ...

Abstract	Inborn errors of immunity (IEI), which were previously termed primary immunodeficiency diseases, represent a large and growing heterogeneous group of diseases that are mostly monogenic. In addition to increased susceptibility to infections, other clinical phenotypes have recently been associated with IEI, such as autoimmune disorders, severe allergies, autoinflammatory disorders, benign lymphoproliferative diseases, and malignant manifestations. The IUIS 2019 classification comprises 430 distinct defects that, although rare individually, represent a group affecting a significant number of patients, with an overall prevalence of 1:1,200-2,000 in the general population. Early IEI diagnosis is critical for appropriate therapy and genetic counseling, however, this process is deeply dependent on accurate laboratory tests. Despite the striking importance of laboratory data for clinical immunologists, several IEI-relevant immunoassays still lack standardization, including standardized protocols, reference materials, and external quality assessment programs. Moreover, well-established reference values mostly remain to be determined, especially for early ages, when the most severe conditions manifest and diagnosis is critical for patient survival. In this article, we intend to approach the issue of standardization and quality control of the nonfunctional diagnostic tests used for IEI, focusing on those frequently utilized in clinical practice. Herein, we will focus on discussing the issues of nonfunctional immunoassays (flow cytometry, enzyme-linked immunosorbent assays, and turbidimetry/nephelometry, among others), as defined by the pure quantification of proteins or cell subsets without cell activation or cell culture-based methods.
MeSH term(s)	Cell Culture Techniques ; Clinical Laboratory Techniques/standards ; Early Diagnosis ; Enzyme-Linked Immunosorbent Assay ; Flow Cytometry ; Humans ; Immunoassay/standards ; Nephelometry and Turbidimetry ; Primary Immunodeficiency Diseases/diagnosis ; Quality Assurance, Health Care ; Reference Standards
Language	English
Publishing date	2021-11-09
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2021.721289
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Immunothrombosis and COVID-19 ‒ a nested post-hoc analysis from a 3186 patient cohort in a Latin American public reference hospital.

de Lima, Clarice Antunes / Gonçalves, Fabio Augusto Rodrigues / Besen, Bruno Adler Maccagnan Pinheiro / Pereira, Antônio José Rodrigues / Perazzio, Sandro Félix / Trindade, Evelinda Marramon / Fonseca, Luiz Augusto Marcondes / Sumita, Nairo Massakazu / Pinto, Vanusa Barbosa / Duarte, Alberto José da Silva / Manin, Carolina Broco / Lichtenstein, Arnaldo

Clinics (Sao Paulo, Brazil)

2023 Volume 78, Page(s) 100178

Abstract: Objective: COVID-19 is associated with an elevated risk of thromboembolism and excess mortality. Difficulties with best anticoagulation practices and their implementation motivated the current analysis of COVID-19 patients who developed Venous ... ...

Abstract	Objective: COVID-19 is associated with an elevated risk of thromboembolism and excess mortality. Difficulties with best anticoagulation practices and their implementation motivated the current analysis of COVID-19 patients who developed Venous Thromboembolism (VTE). Method: This is a post-hoc analysis of a COVID-19 cohort, described in an economic study already published. The authors analyzed a subset of patients with confirmed VTE. We described the characteristics of the cohort, such as demographics, clinical status, and laboratory results. We tested differences amid two subgroups of patients, those with VTE or not, with the competitive risk Fine and Gray model. Results: Out of 3186 adult patients with COVID-19, 245 (7.7%) were diagnosed with VTE, 174 (5.4%) of them during admission to the hospital. Four (2.3% of these 174) did not receive prophylactic anticoagulation and 19 (11%) discontinued anticoagulation for at least 3 days, resulting in 170 analyzed. During the first week of hospitalization, the laboratory most altered results were C-reactive protein and D-dimer. Patients with VTE were more critical, had a higher mortality rate, worse SOFA score, and, on average, 50% longer hospital stay. Conclusion: Proven VTE incidence in this severe COVID-19 cohort was 7.7%, despite 87% of them complying completely with VTE prophylaxis. The clinician must be aware of the diagnosis of VTE in COVID-19, even in patients receiving proper prophylaxis.
MeSH term(s)	Humans ; Adult ; Thromboinflammation ; COVID-19/diagnosis ; COVID-19/epidemiology ; Latin America/epidemiology ; Hospitals, Public ; Venous Thromboembolism/epidemiology ; Venous Thromboembolism/etiology ; Venous Thromboembolism/prevention & control ; Incidence ; Risk Factors ; Anticoagulants/administration & dosage ; Male ; Female ; Length of Stay
Chemical Substances	Anticoagulants
Language	English
Publishing date	2023-02-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	2182801-5
ISSN	1980-5322 ; 1807-5932
ISSN (online)	1980-5322
ISSN	1807-5932
DOI	10.1016/j.clinsp.2023.100178
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.B 404: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Remodeling of the Immune Response With Aging

Cunha, Lucas Leite / Perazzio, Sandro Felix / Azzi, Jamil / Cravedi, Paolo / Riella, Leonardo Vidal

Frontiers in Immunology

Immunosenescence and Its Potential Impact on COVID-19 Immune Response

2020 Volume 11

Keywords	covid19
Publisher	Frontiers Media SA
Publishing country	ch
Document type	Article ; Online
ZDB-ID	2606827-8
ISSN	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2020.01748
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

Order via subito

Details ▾
- Full text online
- Order with fees

To top

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

Order via subito