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Article ; Online: From Churchill to Elephants: The Role of Protective Genes against Cancer.

Gazzellone, Annalisa / Sangiorgi, Eugenio

2024 Volume 15, Issue 1

Abstract: Richard Peto's paradox, first described in 1975 from an epidemiological perspective, established an inverse correlation between the probability of developing cancer in multicellular organisms and the number of cells. Larger animals exhibit fewer tumors ... ...

Abstract	Richard Peto's paradox, first described in 1975 from an epidemiological perspective, established an inverse correlation between the probability of developing cancer in multicellular organisms and the number of cells. Larger animals exhibit fewer tumors compared to smaller ones, though exceptions exist. Mice are more susceptible to cancer than humans, while elephants and whales demonstrate significantly lower cancer prevalence rates than humans. How nature and evolution have addressed the issue of cancer in the animal kingdom remains largely unexplored. In the field of medicine, much attention has been devoted to cancer-predisposing genes, as they offer avenues for intervention, including blocking, downregulating, early diagnosis, and targeted treatment. Predisposing genes also tend to manifest clinically earlier and more aggressively, making them easier to identify. However, despite significant strides in modern medicine, the role of protective genes lags behind. Identifying genes with a mild predisposing effect poses a significant challenge. Consequently, comprehending the protective function conferred by genes becomes even more elusive, and their very existence is subject to questioning. While the role of variable expressivity and penetrance defects of the same variant in a family is well-documented for many hereditary cancer syndromes, attempts to delineate the function of protective/modifier alleles have been restricted to a few instances. In this review, we endeavor to elucidate the role of protective genes observed in the animal kingdom, within certain genetic syndromes that appear to act as cancer-resistant/repressor alleles. Additionally, we explore the role of protective alleles in conditions predisposing to cancer. The ultimate goal is to discern why individuals, like Winston Churchill, managed to live up to 91 years of age, despite engaging in minimal physical activity, consuming large quantities of alcohol daily, and not abstaining from smoking.
MeSH term(s)	Humans ; Animals ; Mice ; Elephants/genetics ; Alleles ; Neoplastic Syndromes, Hereditary ; Medicine ; Cetacea
Language	English
Publishing date	2024-01-18
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes15010118
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: The Clinical Chameleon of Autoinflammatory Diseases in Children.

Sangiorgi, Eugenio / Rigante, Donato

Cells

2022 Volume 11, Issue 14

Abstract: The very first line of defense in humans is innate immunity, serving as a critical strongpoint in the regulation of inflammation. Abnormalities of the innate immunity machinery make up a motley group of rare diseases, named 'autoinflammatory', which are ... ...

Abstract	The very first line of defense in humans is innate immunity, serving as a critical strongpoint in the regulation of inflammation. Abnormalities of the innate immunity machinery make up a motley group of rare diseases, named 'autoinflammatory', which are caused by mutations in genes involved in different immune pathways. Self-limited inflammatory bouts involving skin, serosal membranes, joints, gut and other districts of the human body burst and recur with variable periodicity in most autoinflammatory diseases (ADs), often leading to secondary amyloidosis as a long-term complication. Dysregulated inflammasome activity, overproduction of interleukin (IL)-1 or other IL-1-related cytokines and delayed shutdown of inflammation are pivotal keys in the majority of ADs. The recent progress of cellular biology has clarified many molecular mechanisms behind monogenic ADs, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome (or 'autosomal dominant familial periodic fever'), cryopyrin-associated periodic syndrome, mevalonate kinase deficiency, hereditary pyogenic diseases, idiopathic granulomatous diseases and defects of the ubiquitin-proteasome pathway. A long-lasting history of recurrent fevers should require the ruling out of chronic infections and malignancies before considering ADs in children. Little is known about the potential origin of polygenic ADs, in which sterile cytokine-mediated inflammation results from the activation of the innate immunity network, without familial recurrency, such as periodic fever/aphthous stomatitis/pharyngitis/cervical adenopathy (PFAPA) syndrome. The puzzle of febrile attacks recurring over time with chameleonic multi-inflammatory symptoms in children demands the inspection of the mixture of clinical data, inflammation parameters in the different disease phases, assessment of therapeutic efficacy of a handful of drugs such as corticosteroids, colchicine or IL-1 antagonists, and genotype analysis to exclude or confirm a monogenic origin.
MeSH term(s)	Amyloidosis ; Child ; Fever ; Hereditary Autoinflammatory Diseases/diagnosis ; Hereditary Autoinflammatory Diseases/genetics ; Humans ; Immunity, Innate ; Inflammation ; Interleukin-1 ; Recurrence ; Syndrome
Chemical Substances	Interleukin-1
Language	English
Publishing date	2022-07-18
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells11142231
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Article ; Online: RADX Gene Variant May Predispose to Familial Asperger Syndrome

Azzarà, Alessia / Rumore, Roberto / Brugnoletti, Fulvia / Tabolacci, Elisabetta / Bottillo, Irene / Sangiorgi, Eugenio / Gurrieri, Fiorella

Genes (Basel). 2023 Jan. 23, v. 14, no. 2

2023

Abstract: Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas ...

Abstract	Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical criteria are not well defined and the etiology is heterogeneous and mostly unknown. Like in typical autism spectrum disorders (ASD), the genetic background plays a crucial role in AS, and often an almost mendelian segregation can be observed in some families. We performed a whole exome sequencing (WES) in three relatives of a family with vertical transmission of AS-ASD to identify variants in candidate genes segregating with the phenotype. Variant p.(Cys834Ser) in the RADX gene was the only one segregating among all the affected family members. This gene encodes a single-strand DNA binding factor, which mediates the recruitment of genome maintenance proteins to sites of replication stress. Replication stress and genome instability have been reported recently in neural progenitor cells derived from ASD patients, leading to a disruption of long neural genes involved in cell–cell adhesion and migration. We propose RADX as a new gene that when mutated could represent a predisposing factor to AS-ASD.
Keywords	DNA ; autism ; cell adhesion ; etiology ; genes ; genetic background ; genetic instability ; mathematics ; memory ; phenotype
Language	English
Dates of publication	2023-0123
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14020301
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: RADX

Azzarà, Alessia / Rumore, Roberto / Brugnoletti, Fulvia / Tabolacci, Elisabetta / Bottillo, Irene / Sangiorgi, Eugenio / Gurrieri, Fiorella

Genes

2023 Volume 14, Issue 2

Abstract	Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical criteria are not well defined and the etiology is heterogeneous and mostly unknown. Like in typical autism spectrum disorders (ASD), the genetic background plays a crucial role in AS, and often an almost mendelian segregation can be observed in some families. We performed a whole exome sequencing (WES) in three relatives of a family with vertical transmission of AS-ASD to identify variants in candidate genes segregating with the phenotype. Variant p.(Cys834Ser) in the
MeSH term(s)	Humans ; Asperger Syndrome ; Autism Spectrum Disorder/genetics ; Proteins/genetics ; Intellectual Disability/genetics ; Phenotype
Chemical Substances	Proteins
Language	English
Publishing date	2023-01-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14020301
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Article ; Online: Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers.

Sangiorgi, Eugenio / Azzarà, Alessia / Rumore, Roberto / Cassano, Ilaria / Verrecchia, Elena / Giacò, Luciano / Tullio, Maria Alessandra / Gurrieri, Fiorella / Manna, Raffaele

Genes

2023 Volume 14, Issue 7

Abstract: Periodic fever syndromes include autoinflammatory disorders (AID) that involve innate immunity. These disorders are characterized by recurrent fevers and aberrant multi-organ inflammation, without any involvement of T or B cells or the presence of ... ...

Abstract	Periodic fever syndromes include autoinflammatory disorders (AID) that involve innate immunity. These disorders are characterized by recurrent fevers and aberrant multi-organ inflammation, without any involvement of T or B cells or the presence of autoantibodies. A complex genetic architecture has been recognized for many AID. However, this complexity has only been partially uncovered for familial Mediterranean fever and other conditions that have a classical monogenic origin and Mendelian transmission. Several gene panels are currently available for molecular diagnosis in patients suspected of having AID. However, even when an extensive number of genes (up to 50-100) are tested in a cohort of clinically selected patients, the diagnostic yield of AID ranges between 15% and 25%, depending on the clinical criteria used for patient selection. In the remaining 75-85% of cases, it is conceivable that the causative gene or genes responsible for a specific condition are still elusive. In these cases, the disease could be explained by variants, either recessive or dominant, that have a major effect on unknown genes, or by the cumulative impact of different variants in more than one gene, each with minor additive effects. In this study, we focused our attention on five familial cases of AID presenting with classical autosomal dominant transmission. To identify the probable monogenic cause, we performed exome sequencing. Through prioritization, filtering, and segregation analysis, we identified a few variants for each family. Subsequent bioinformatics evaluation and pathway analysis helped to narrow down the best candidate genes for each family to
MeSH term(s)	Humans ; Exome Sequencing ; Familial Mediterranean Fever/diagnosis ; Familial Mediterranean Fever/genetics ; Inflammation ; Syndrome ; Fever/genetics
Language	English
Publishing date	2023-06-21
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071310
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Article ; Online: Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers

Sangiorgi, Eugenio / Azzarà, Alessia / Rumore, Roberto / Cassano, Ilaria / Verrecchia, Elena / Giacò, Luciano / Tullio, Maria Alessandra / Gurrieri, Fiorella / Manna, Raffaele

Genes (Basel). 2023 June 21, v. 14, no. 7

2023

Abstract	Periodic fever syndromes include autoinflammatory disorders (AID) that involve innate immunity. These disorders are characterized by recurrent fevers and aberrant multi-organ inflammation, without any involvement of T or B cells or the presence of autoantibodies. A complex genetic architecture has been recognized for many AID. However, this complexity has only been partially uncovered for familial Mediterranean fever and other conditions that have a classical monogenic origin and Mendelian transmission. Several gene panels are currently available for molecular diagnosis in patients suspected of having AID. However, even when an extensive number of genes (up to 50–100) are tested in a cohort of clinically selected patients, the diagnostic yield of AID ranges between 15% and 25%, depending on the clinical criteria used for patient selection. In the remaining 75–85% of cases, it is conceivable that the causative gene or genes responsible for a specific condition are still elusive. In these cases, the disease could be explained by variants, either recessive or dominant, that have a major effect on unknown genes, or by the cumulative impact of different variants in more than one gene, each with minor additive effects. In this study, we focused our attention on five familial cases of AID presenting with classical autosomal dominant transmission. To identify the probable monogenic cause, we performed exome sequencing. Through prioritization, filtering, and segregation analysis, we identified a few variants for each family. Subsequent bioinformatics evaluation and pathway analysis helped to narrow down the best candidate genes for each family to FCRL6, PKN1, STAB1, PTDGR, and VCAM1. Future studies on larger cohorts of familial cases will help confirm the pathogenic role of these genes in the pathogenesis of these complex disorders.
Keywords	autoantibodies ; bioinformatics ; familial Mediterranean fever ; fever ; genes ; inflammation ; innate immunity ; pathogenesis ; patients ; prioritization
Language	English
Dates of publication	2023-0621
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14071310
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Article ; Online: Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi, Eugenio / Giannuzzi, Federico / Molinario, Clelia / Rapari, Giulia / Riccio, Melania / Cuffaro, Giovanni / Castri, Federica / Benvenuto, Roberta / Genuardi, Maurizio / Massi, Daniela / Savino, Gustavo

Genes

2023 Volume 14, Issue 11

Abstract: Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that ... ...

Abstract	Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may confer resistance to other therapies. Particularly for rare conditions, personalized medicine has the potential to revolutionize treatment strategies. Rare cancers often lack extensive datasets of molecular and pathological information, large-scale trials for novel therapies, and established treatment guidelines. Consequently, surgery is frequently the only viable option for many rare tumors, when feasible, as traditional multimodal approaches employed for more common cancers often play a limited role. Sebaceous carcinoma of the eyelid is an exceptionally rare cancer affecting the eye's adnexal tissues, most frequently reported in Asia, but whose prevalence is significantly increasing even in Europe and the US. The sole established curative treatment is surgical excision, which can lead to significant disfigurement. In cases of metastatic sebaceous carcinoma, validated drug options are currently lacking. In this project, we set out to characterize the mutational landscape of two sebaceous carcinomas of the eyelid following surgical excision. Utilizing available bioinformatics tools, we demonstrated our ability to identify common features promptly and accurately in both tumors. These features included a Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues. These findings had not been previously reported in similar studies. This report underscores how, in the case of rare tumors, it is possible to comprehensively characterize the mutational landscape of each individual case, potentially opening doors to targeted therapeutic options.
MeSH term(s)	Humans ; Sebaceous Gland Neoplasms/genetics ; Sebaceous Gland Neoplasms/pathology ; Sebaceous Gland Neoplasms/surgery ; Adenocarcinoma, Sebaceous/genetics ; Adenocarcinoma, Sebaceous/pathology ; Adenocarcinoma, Sebaceous/surgery ; Eyelids/pathology ; Carcinoma, Basal Cell ; Skin Neoplasms ; DNA Repair
Language	English
Publishing date	2023-11-08
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14112055
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Article ; Online: Clinical and molecular features of familial chronic lymphocytic leukemia: a pilot monocentric study.

Benintende, Giulia / Innocenti, Idanna / Fresa, Alberto / Autore, Francesco / Tomasso, Annamaria / Piciocchi, Alfonso / Vuono, Florenzia / Stirparo, Luca / Mosca, Antonio / Bacigalupo, Andrea / Gattei, Valter / Efremov, Dimitar / Sangiorgi, Eugenio / Laurenti, Luca

Haematologica

2023 Volume 108, Issue 8, Page(s) 2240–2243

MeSH term(s)	Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics
Language	English
Publishing date	2023-08-01
Publishing country	Italy
Document type	Letter
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2022.282268
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Article ; Online: Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment.

Paciaroni, Katia / Sangiorgi, Eugenio / Pulvirenti, Federica / Villiva, Nicoletta / Andrizzi, Cristina / Campagna, Selenia / Tordi, Attilio / Celesti, Francesca / Manna, Raffaele / Gurrieri, Fiorella / Licci, Stefano / di Toritto, Tommaso Caravita

Leukemia & lymphoma

2023 Volume 64, Issue 14, Page(s) 2343–2346

MeSH term(s)	Humans ; Adenosine Deaminase/genetics ; Neutropenia/etiology ; Neutropenia/genetics
Chemical Substances	Adenosine Deaminase (EC 3.5.4.4)
Language	English
Publishing date	2023-09-12
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1042374-6
ISSN	1029-2403 ; 1042-8194
ISSN (online)	1029-2403
ISSN	1042-8194
DOI	10.1080/10428194.2023.2255912
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Article ; Online: Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis.

D'Ambrosio, Viola / Azzarà, Alessia / Sangiorgi, Eugenio / Gurrieri, Fiorella / Hess, Bernhard / Gambaro, Giovanni / Ferraro, Pietro Manuel

Kidney & blood pressure research

2021 Volume 46, Issue 4, Page(s) 469–474

Abstract: Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH. If not treated, this chronic condition eventually leads to ... ...

Abstract	Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH. If not treated, this chronic condition eventually leads to nephrocalcinosis, nephrolithiasis, impaired renal function, and bone demineralization. dRTA is a well-defined entity that can be diagnosed by genetic testing of 5 genes known to be disease-causative. Incomplete dRTA (idRTA) is defined as impaired urinary acidification that does not lead to overt metabolic acidosis and therefore can be diagnosed if patients fail to adequately acidify urine after an ammonium chloride (NH4Cl) challenge or furosemide and fludrocortisone test. It is still uncertain whether idRTA represents a distinct entity or is part of the dRTA spectrum and whether it is caused by mutations in the same genes of overt dRTA. Methods: In this cross-sectional study, we investigated a group of 22 stone formers whose clinical features were suspicious of idRTA. They underwent an NH4Cl challenge and were found to have impaired urinary acidification ability. These patients were then analyzed by genetic testing with sequencing of 5 genes: SLC4A1, ATP6V1B1, ATP6V0A4, FOXI1, and WDR72. Results: Two unrelated individuals were found to have two different variants in SLC4A1 that had never been described before. Conclusions: Our results suggest the involvement of other genes or nongenetic tubular dysfunction in the pathogenesis of idRTA in stone formers. However, genetic testing may represent a cost-effective tool to recognize, treat, and prevent complications in these patients.
MeSH term(s)	Acidosis, Renal Tubular/complications ; Acidosis, Renal Tubular/genetics ; Adult ; Cross-Sectional Studies ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Genetic Variation ; Humans ; Male ; Middle Aged ; Nephrolithiasis/etiology ; Nephrolithiasis/genetics
Language	English
Publishing date	2021-06-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1326018-2
ISSN	1423-0143 ; 1420-4096
ISSN (online)	1423-0143
ISSN	1420-4096
DOI	10.1159/000516389
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