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Article ; Online: Innovations in Medicine: Exploring ChatGPT's Impact on Rare Disorder Management.

Zampatti, Stefania / Peconi, Cristina / Megalizzi, Domenica / Calvino, Giulia / Trastulli, Giulia / Cascella, Raffaella / Strafella, Claudia / Caltagirone, Carlo / Giardina, Emiliano

Genes

2024 Volume 15, Issue 4

Abstract: Artificial intelligence (AI) is rapidly transforming the field of medicine, announcing a new era of innovation and efficiency. Among AI programs designed for general use, ChatGPT holds a prominent position, using an innovative language model developed by ...

Abstract	Artificial intelligence (AI) is rapidly transforming the field of medicine, announcing a new era of innovation and efficiency. Among AI programs designed for general use, ChatGPT holds a prominent position, using an innovative language model developed by OpenAI. Thanks to the use of deep learning techniques, ChatGPT stands out as an exceptionally viable tool, renowned for generating human-like responses to queries. Various medical specialties, including rheumatology, oncology, psychiatry, internal medicine, and ophthalmology, have been explored for ChatGPT integration, with pilot studies and trials revealing each field's potential benefits and challenges. However, the field of genetics and genetic counseling, as well as that of rare disorders, represents an area suitable for exploration, with its complex datasets and the need for personalized patient care. In this review, we synthesize the wide range of potential applications for ChatGPT in the medical field, highlighting its benefits and limitations. We pay special attention to rare and genetic disorders, aiming to shed light on the future roles of AI-driven chatbots in healthcare. Our goal is to pave the way for a healthcare system that is more knowledgeable, efficient, and centered around patient needs.
MeSH term(s)	Humans ; Rare Diseases/genetics ; Rare Diseases/therapy ; Artificial Intelligence ; Deep Learning ; Precision Medicine/methods ; Precision Medicine/trends
Language	English
Publishing date	2024-03-28
Publishing country	Switzerland
Document type	Journal Article ; Review ; 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/genes15040421
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.

Zampatti, Stefania / Peconi, Cristina / Calvino, Giulia / Ferese, Rosangela / Gambardella, Stefano / Cascella, Raffaella / Sebastiani, Jacopo / Falsini, Benedetto / Cusumano, Andrea / Giardina, Emiliano

Genes

2023 Volume 14, Issue 8

Abstract: Stargardt macular dystrophy is a genetic disorder, but in many cases, the causative gene remains unrevealed. Through a combined approach (whole-exome sequencing and phenotype/family-driven filtering algorithm) and a multilevel validation (international ... ...

Abstract	Stargardt macular dystrophy is a genetic disorder, but in many cases, the causative gene remains unrevealed. Through a combined approach (whole-exome sequencing and phenotype/family-driven filtering algorithm) and a multilevel validation (international database searching, prediction scores calculation, splicing analysis assay, segregation analyses), a biallelic mutation in the
MeSH term(s)	Humans ; Animals ; Mice ; RNA Splicing ; Algorithms ; Biological Assay ; Databases, Factual ; Stargardt Disease/genetics
Language	English
Publishing date	2023-08-21
Publishing country	Switzerland
Document type	Case Reports ; 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/genes14081659
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series.

Cusumano, Andrea / Falsini, Benedetto / D'Ambrosio, Michele / D'Apolito, Fabian / Sebastiani, Jacopo / Levialdi Ghiron, Jung Hee / Giardina, Emiliano / Cascella, Raffaella

Case reports in ophthalmology

2023 Volume 14, Issue 1, Page(s) 626–639

Abstract: Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 : Case ... ...

Abstract	Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 Case presentation: Three DHRD patients (case 1, male and cases 2 and 3, two sister females, age range 41-46) with Conclusion: This is the first report showing that in a long-term follow-up, 2RT treatment in DHRD may improve or stabilize some retinal function parameters without significant structural changes.
Language	English
Publishing date	2023-11-23
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2577666-6
ISSN	1663-2699
ISSN	1663-2699
DOI	10.1159/000534579
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Longitudinal Structure-Function Evaluation in a Patient with

Cusumano, Andrea / Falsini, Benedetto / D'Apolito, Fabian / D'Ambrosio, Michele / Sebastiani, Jacopo / Cascella, Raffaella / Barati, Shila / Giardina, Emiliano

Diagnostics (Basel, Switzerland)

2023 Volume 13, Issue 3

Abstract: Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (: Methods: A 14-year-old girl was evaluated between 2019 and 2022. An ophthalmological assessment, including color vision, perimetry, ... ...

Abstract	Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 ( Methods: A 14-year-old girl was evaluated between 2019 and 2022. An ophthalmological assessment, including color vision, perimetry, electroretinography, and multimodal imaging of the retina, was performed periodically every six months. Next-generation sequencing disclosed two likely pathogenic/pathogenic variants in the Results: At first examination, the patient showed a cone-rod pattern retinal dystrophy. Over follow-up, there was a decline of visual acuity and perimetric sensitivity (by ≥0.3 and 0.6 log units, respectively). Visual loss was associated with a progressive increase in inner retinal thickness (by 30%). Outer retina showed no detectable changes over the follow-up. Conclusions: The results indicate that, in this patient with a
Language	English
Publishing date	2023-01-20
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics13030392
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Article ; Online: Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.

Megalizzi, Domenica / Trastulli, Giulia / Caputo, Valerio / Colantoni, Luca / Caltagirone, Carlo / Strafella, Claudia / Cascella, Raffaella / Giardina, Emiliano

Electrophoresis

2023 Volume 44, Issue 19-20, Page(s) 1588–1594

Abstract: The alteration of epigenetic modifications, including DNA methylation, can contribute to the etiopathogenesis and progression of many diseases. Among them, facioscapulohumeral dystrophy (FSHD) is a muscular disorder characterized by the loss of ... ...

Abstract	The alteration of epigenetic modifications, including DNA methylation, can contribute to the etiopathogenesis and progression of many diseases. Among them, facioscapulohumeral dystrophy (FSHD) is a muscular disorder characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). As a consequence, these alterations are responsible for DNA hypomethylation and a transcriptional-active chromatin conformation change that, in turn, lead to the aberrant expression of DUX4 in muscle cells. In the present study, methylation levels of 29 CpG sites of the DR1 region (within each repeat unit of the D4Z4 macrosatellite) were assessed on 335 subjects by employing primers designed for enhancing the performance of the assay. First, the DR1 original primers were optimized by adding M13 oligonucleotide tails. Moreover, the DR1 reverse primer was replaced with a degenerate one. As a result, the protocol optimization allowed a better sequencing resolution and a more accurate evaluation of DR1 methylation levels. Moreover, the assessment of the repeatability of measurements proved the reliability and robustness of the assay. The optimized protocol emerges as an excellent method to detect methylation levels compatible with FSHD.
Language	English
Publishing date	2023-08-11
Publishing country	Germany
Document type	Journal Article
ZDB-ID	619001-7
ISSN	1522-2683 ; 0173-0835
ISSN (online)	1522-2683
ISSN	0173-0835
DOI	10.1002/elps.202300058
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Article: Whole exome sequencing highlights rare variants in

Strafella, Claudia / Caputo, Valerio / Bortolani, Sara / Torchia, Eleonora / Megalizzi, Domenica / Trastulli, Giulia / Monforte, Mauro / Colantoni, Luca / Caltagirone, Carlo / Ricci, Enzo / Tasca, Giorgio / Cascella, Raffaella / Giardina, Emiliano

Frontiers in genetics

2023 Volume 14, Page(s) 1235589

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2023-08-22
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2023.1235589
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Investigation of Genetic Variations of

Strafella, Claudia / Caputo, Valerio / Termine, Andrea / Barati, Shila / Caltagirone, Carlo / Giardina, Emiliano / Cascella, Raffaella

Life (Basel, Switzerland)

2020 Volume 10, Issue 12

Abstract: In the present study, we investigated the distribution of genetic variations ... ...

Abstract	In the present study, we investigated the distribution of genetic variations in
Language	English
Publishing date	2020-12-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662250-6
ISSN	2075-1729
ISSN	2075-1729
DOI	10.3390/life10120351
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Article ; Online: Longitudinal Structure–Function Evaluation in a Patient with CDHR1 -Associated Retinal Dystrophy

Andrea Cusumano / Benedetto Falsini / Fabian D’Apolito / Michele D’Ambrosio / Jacopo Sebastiani / Raffaella Cascella / Shila Barati / Emiliano Giardina

Diagnostics, Vol 13, Iss 392, p

Progressive Visual Function Loss with Retinal Remodeling

2023 Volume 392

Abstract: Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 ( CDHR1 ) gene are rare and phenotypically heterogeneous. Here, we report a longitudinal (three-year) structure–function evaluation of a patient with a ... ...

Abstract	Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 ( CDHR1 ) gene are rare and phenotypically heterogeneous. Here, we report a longitudinal (three-year) structure–function evaluation of a patient with a CDHR1 -related retinal dystrophy. Methods: A 14-year-old girl was evaluated between 2019 and 2022. An ophthalmological assessment, including color vision, perimetry, electroretinography, and multimodal imaging of the retina, was performed periodically every six months. Next-generation sequencing disclosed two likely pathogenic/pathogenic variants in the CDHR1 gene, in compound heterozygosity, confirmed by segregation analysis. Results: At first examination, the patient showed a cone–rod pattern retinal dystrophy. Over follow-up, there was a decline of visual acuity and perimetric sensitivity (by ≥0.3 and 0.6 log units, respectively). Visual loss was associated with a progressive increase in inner retinal thickness (by 30%). Outer retina showed no detectable changes over the follow-up. Conclusions: The results indicate that, in this patient with a CDHR1 -related cone–rod dystrophy, the progression to severe visual loss was paralleled by a progressive inner retinal thickening, likely a reflection of remodeling. Inner retinal changes over time may be functionally relevant in view of the therapeutic attempts based on gene therapy or stem cells to mitigate photoreceptor loss.
Keywords	cone–rod dystrophy ; CDHR1 gene ; visual function ; retinal structure ; inner retina ; retinal remodeling ; Medicine (General) ; R5-920
Subject code	616
Language	English
Publishing date	2023-01-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.

Caputo, Valerio / Megalizzi, Domenica / Fabrizio, Carlo / Termine, Andrea / Colantoni, Luca / Caltagirone, Carlo / Giardina, Emiliano / Cascella, Raffaella / Strafella, Claudia

Cells

2022 Volume 11, Issue 17

Abstract: Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype-phenotype correlation of ... ...

Abstract	Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype-phenotype correlation of patients and families, raising the need for further research and data. Thus, the present review provides an update of the main molecular aspects underlying the complex architecture of FSHD, including the genetic factors (related to
MeSH term(s)	Chromatin ; Homeodomain Proteins/metabolism ; Humans ; Muscular Dystrophy, Facioscapulohumeral/genetics ; Muscular Dystrophy, Facioscapulohumeral/metabolism ; Protein Processing, Post-Translational
Chemical Substances	Chromatin ; Homeodomain Proteins
Language	English
Publishing date	2022-08-29
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells11172687
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Epigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level

Megalizzi, Domenica / Trastulli, Giulia / Caputo, Valerio / Colantoni, Luca / Caltagirone, Carlo / Strafella, Claudia / Cascella, Raffaella / Giardina, Emiliano

ELECTROPHORESIS. 2023 Oct., v. 44, no. 19-20 p.1588-1594

2023

Abstract	The alteration of epigenetic modifications, including DNA methylation, can contribute to the etiopathogenesis and progression of many diseases. Among them, facioscapulohumeral dystrophy (FSHD) is a muscular disorder characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). As a consequence, these alterations are responsible for DNA hypomethylation and a transcriptional‐active chromatin conformation change that, in turn, lead to the aberrant expression of DUX4 in muscle cells. In the present study, methylation levels of 29 CpG sites of the DR1 region (within each repeat unit of the D4Z4 macrosatellite) were assessed on 335 subjects by employing primers designed for enhancing the performance of the assay. First, the DR1 original primers were optimized by adding M13 oligonucleotide tails. Moreover, the DR1 reverse primer was replaced with a degenerate one. As a result, the protocol optimization allowed a better sequencing resolution and a more accurate evaluation of DR1 methylation levels. Moreover, the assessment of the repeatability of measurements proved the reliability and robustness of the assay. The optimized protocol emerges as an excellent method to detect methylation levels compatible with FSHD.
Keywords	DNA hypomethylation ; chromatin ; electrophoresis ; epigenetics ; loci ; muscles ; oligonucleotides
Language	English
Dates of publication	2023-10
Size	p. 1588-1594.
Publishing place	John Wiley & Sons, Ltd
Document type	Article ; Online
Note	JOURNAL ARTICLE
ZDB-ID	619001-7
ISSN	1522-2683 ; 0173-0835
ISSN (online)	1522-2683
ISSN	0173-0835
DOI	10.1002/elps.202300058
Database	NAL-Catalogue (AGRICOLA)

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