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Article ; Online: Bridging Genetic Insights with Neuroimaging in Autism Spectrum Disorder-A Systematic Review.

Vilela, Joana / Rasga, Célia / Santos, João Xavier / Martiniano, Hugo / Marques, Ana Rita / Oliveira, Guiomar / Vicente, Astrid Moura

International journal of molecular sciences

2024 Volume 25, Issue 9

Abstract: Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have ...

Abstract	Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques that study alterations in brain structure and function. Combined with genetic analysis, these techniques have the potential to help in the clarification of the neurobiological mechanisms contributing to ASD and help in defining novel therapeutic targets. To further understand what is known today regarding the impact of genetic variants in the brain alterations observed in individuals with ASD, a systematic review was carried out using Pubmed and EBSCO databases and following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. This review shows that specific genetic variants and altered patterns of gene expression in individuals with ASD may have an effect on brain circuits associated with face processing and social cognition, and contribute to excitation-inhibition imbalances and to anomalies in brain volumes.
MeSH term(s)	Humans ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/diagnostic imaging ; Neuroimaging/methods ; Brain/diagnostic imaging ; Brain/pathology ; Brain/metabolism ; Electroencephalography ; Genetic Predisposition to Disease
Language	English
Publishing date	2024-04-30
Publishing country	Switzerland
Document type	Journal Article ; Systematic Review ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25094938
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.

Vilela, Joana / Martiniano, Hugo / Marques, Ana Rita / Santos, João Xavier / Asif, Muhammad / Rasga, Célia / Oliveira, Guiomar / Vicente, Astrid Moura

Biomedicines

2023 Volume 11, Issue 11

Abstract: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; ... ...

Abstract	Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes; however, the genetic architecture of this disease is far from clear. In this study, we seek to clarify the biological processes affected by NS gene variants identified in individuals with ASD and the global networks that link those processes together. For a curated list of 1216 NS candidate genes, identified in multiple databases and the literature, we searched for ultra-rare (UR) loss-of-function (LoF) variants in the whole-exome sequencing dataset from the Autism Sequencing Consortium (N = 3938 cases). Filtering for population frequency was carried out using gnomAD (N = 60,146 controls). NS genes with UR LoF variants were used to construct a network of protein-protein interactions, and the network's biological communities were identified by applying the Leiden algorithm. We further explored the expression enrichment of network genes in specific brain regions. We identified 356 variants in 208 genes, with a preponderance of UR LoF variants in the
Language	English
Publishing date	2023-11-04
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines11112971
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Anti-

Costa, Paulo Wbiratan Lopes / Oliveira, Clarisse Silva Menezes / Bezerra, Roberto Alves / Alvares, Felipe Boniedj Ventura / Formiga, Victor Hugo Alves Sousa / Martins, Marianne Rachel Domiciano Dantas / Feitosa, Thais Ferreira / Vilela, Vinícius Longo Ribeiro

Tropical medicine and infectious disease

2023 Volume 8, Issue 4

Abstract: The aim of this study was to describe the prevalence of anti- ...

Abstract	The aim of this study was to describe the prevalence of anti-
Language	English
Publishing date	2023-04-20
Publishing country	Switzerland
Document type	Journal Article
ISSN	2414-6366
ISSN (online)	2414-6366
DOI	10.3390/tropicalmed8040234
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Seropositivity of Anti-

Sousa Formiga, Victor Hugo Alves / Alvares, Felipe Boniedj Ventura / Anjos, Mariana Moreira / Freitas, Jefferson Vieira / Silva, Daiane Peixer / Parentoni, Roberta Nunes / Lima Brasil, Arthur Willian / Medeiros, Gláucia Diojânia Azevêdo / Feitosa, Thais Ferreira / Vilela, Vinícius Longo Ribeiro

Tropical medicine and infectious disease

2023 Volume 8, Issue 7

Abstract: Toxoplasma ... ...

Abstract	Toxoplasma gondii
Language	English
Publishing date	2023-07-10
Publishing country	Switzerland
Document type	Journal Article
ISSN	2414-6366
ISSN (online)	2414-6366
DOI	10.3390/tropicalmed8070359
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Coinfección dengue y SARS-COV-2 en paciente HIV positivo.

Salvo, Carolina P / Di Lella, Natalia / Solveyra López, Florencia / Hugo, Jorge / Gigena Zito, Julieta / Vilela, Andrés

Medicina

2021 Volume 80 Suppl 6, Page(s) 94–96

Abstract: Dengue is a mosquito-borne viral disease confined to the geographical areas where its vectors Aedes aegypti and Aedes albopictus are present. The transmission occurs mainly during the summer but it can extend to autumn months in warm climates. In our ... ...

Title translation	Dengue and SARS-CoV-2 coinfection in an HIV positive patient.
Abstract	Dengue is a mosquito-borne viral disease confined to the geographical areas where its vectors Aedes aegypti and Aedes albopictus are present. The transmission occurs mainly during the summer but it can extend to autumn months in warm climates. In our country, this year the seasonal transmission o f dengue overlapped with the COVID-19 pandemic, caused by SARS-CoV-2, a novel coronavirus responsible of serious respiratory conditions with eventual fatal outcomes. On the other hand, the HIV is a retrovirus that causes disease by weakening the immune system, favoring infections by numerous opportunistic pathogens. We present the case of an untreated HIV patient who developed simultaneous infection with dengue and SARS-CoV-2 with favorable evolution.
MeSH term(s)	Aedes ; Animals ; COVID-19 ; Coinfection ; Dengue/complications ; Dengue/diagnosis ; Dengue/epidemiology ; Dengue Virus ; HIV Infections/complications ; Humans ; Mosquito Vectors ; Pandemics ; SARS-CoV-2
Language	Spanish
Publishing date	2021-01-26
Publishing country	Argentina
Document type	Journal Article
ZDB-ID	411586-7
ISSN	1669-9106 ; 0025-7680 ; 0325-951X
ISSN (online)	1669-9106
ISSN	0025-7680 ; 0325-951X
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder.

Marques, Ana Rita / Santos, João Xavier / Martiniano, Hugo / Vilela, Joana / Rasga, Célia / Romão, Luísa / Vicente, Astrid Moura

Biomedicines

2022 Volume 10, Issue 3

Abstract: Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory ... ...

Abstract	Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay (NMD) pathway, may contribute to ASD risk. In this study, we gathered a list of 46 NMD factors and regulators and investigated the role of genetic variants in these genes in ASD. By conducting a comprehensive search for Single Nucleotide Variants (SNVs) in NMD genes using Whole Exome Sequencing data from 1828 ASD patients, we identified 270 SNVs predicted to be damaging in 28.7% of the population. We also analyzed Copy Number Variants (CNVs) from two cohorts of ASD patients (N = 3570) and discovered 38 CNVs in 1% of cases. Importantly, we discovered 136 genetic variants (125 SNVs and 11 CNVs) in 258 ASD patients that were located within protein domains required for NMD. These gene variants are classified as damaging using
Language	English
Publishing date	2022-03-13
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines10030665
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Vilela, Joana / Martiniano, Hugo / Marques, Ana Rita / Santos, João Xavier / Rasga, Célia / Oliveira, Guiomar / Vicente, Astrid Moura

Frontiers in molecular neuroscience

2022 Volume 15, Page(s) 932305

Abstract: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates ... ...

Abstract	Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we established a genetic similarity disease network approach to explore the shared genetics between ASD and frequent comorbid brain diseases (and subtypes), namely Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy, as well as other rarely co-occurring neuropsychiatric conditions in the Schizophrenia and Bipolar Disease spectrum. Using sets of disease-associated genes curated by the DisGeNET database, disease genetic similarity was estimated from the Jaccard coefficient between disease pairs, and the Leiden detection algorithm was used to identify network disease communities and define shared biological pathways. We identified a heterogeneous brain disease community that is genetically more similar to ASD, and that includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. To identify loss-of-function rare
Language	English
Publishing date	2022-08-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452967-9
ISSN	1662-5099
ISSN	1662-5099
DOI	10.3389/fnmol.2022.932305
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Fluoroscopy only for the placement of long iliac screws: A study on 14 patients.

Vilela, Marcelo D / Braga, Bruno P / Pedrosa, Hugo A S

Surgical neurology international

2018 Volume 9, Page(s) 108

Abstract: Background: Iliac screw placement is challenging due to the particular anatomy of the ilium. Most series have reported the use of relatively short (≤90 mm in length) screws despite a long iliac buttress, which has an average length of 129 mm in females ... ...

Abstract	Background: Iliac screw placement is challenging due to the particular anatomy of the ilium. Most series have reported the use of relatively short (≤90 mm in length) screws despite a long iliac buttress, which has an average length of 129 mm in females and 141 mm in males. This study describes a series of 14 patients who underwent placement of long iliac screws (≥100 mm in length) as part of a spinopelvic fusion utilizing fluoroscopy alone. Methods: All patients who received at least one long iliac screw were included in this study. Placement accuracy, the average distance from the screw tip to the anterior inferior iliac spine (AIIS), neurovascular injuries, acetabulum and/or sciatic notch violations, and screw prominence were all measured. Results: Fourteen patients received 38 iliac screws, with 31 screws being ≥100 mm in length. The accuracy rate was 87.1% (27/31) for the long iliac screws. The average shortest distance from the iliac screw tip to the AIIS was 15.5 mm for the right-sided and 17.1 mm for the left-sided ilia. There were no neurovascular injuries, acetabulum, or sciatic notch violations, and no screws loosened or fractured. Of interest, only one patient required off-set connectors to link the rods to the iliac screws. Conclusions: Placement of long iliac screws under intraoperative fluoroscopy only was shown to be feasible, with a high accuracy rate and few complications, in this series of patients.
Language	English
Publishing date	2018-05-25
Publishing country	United States
Document type	Journal Article
ISSN	2229-5097
ISSN	2229-5097
DOI	10.4103/sni.sni_59_18
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder

Ana Rita Marques / João Xavier Santos / Hugo Martiniano / Joana Vilela / Célia Rasga / Luísa Romão / Astrid Moura Vicente

Biomedicines, Vol 10, Iss 665, p

2022 Volume 665

Abstract	Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with unclear etiology. Many genes have been associated with ASD risk, but the underlying mechanisms are still poorly understood. An important post-transcriptional regulatory mechanism that plays an essential role during neurodevelopment, the Nonsense-Mediated mRNA Decay (NMD) pathway, may contribute to ASD risk. In this study, we gathered a list of 46 NMD factors and regulators and investigated the role of genetic variants in these genes in ASD. By conducting a comprehensive search for Single Nucleotide Variants (SNVs) in NMD genes using Whole Exome Sequencing data from 1828 ASD patients, we identified 270 SNVs predicted to be damaging in 28.7% of the population. We also analyzed Copy Number Variants (CNVs) from two cohorts of ASD patients (N = 3570) and discovered 38 CNVs in 1% of cases. Importantly, we discovered 136 genetic variants (125 SNVs and 11 CNVs) in 258 ASD patients that were located within protein domains required for NMD. These gene variants are classified as damaging using in silico prediction tools, and therefore may interfere with proper NMD function in ASD. The discovery of NMD genes as candidates for ASD in large patient genomic datasets provides evidence supporting the involvement of the NMD pathway in ASD pathophysiology.
Keywords	autism spectrum disorder ; nonsense-mediated mRNA decay ; single nucleotide variants ; copy number variants ; Biology (General) ; QH301-705.5
Subject code	570
Language	English
Publishing date	2022-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Long iliac screw fixation in a case of isthmic spondyloptosis.

Vilela, Marcelo D / Braga, Bruno P / Pedrosa, Hugo A S

Surgical neurology international

2017 Volume 8, Page(s) 110

Abstract: Background: We report the case of a patient with a spondyloptosis who presented with progressive deformity and worsening neurological deficits. The patient had two previous lumbosacral instrumented fusions.: Case description: A salvage revision ... ...

Abstract	Background: We report the case of a patient with a spondyloptosis who presented with progressive deformity and worsening neurological deficits. The patient had two previous lumbosacral instrumented fusions. Case description: A salvage revision surgery was performed, in which long iliac screws along with anterior column support at L5-S1 were used to immobilize the lumbosacral junction. Two years after the procedure a solid fusion is seen along with marked neurological improvement. Conclusions: Pelvic fixation using long iliac screws is a very useful technique that can be employed when revision surgery for high-grade spondylolisthesis is needed.
Language	English
Publishing date	2017-06-13
Publishing country	United States
Document type	Case Reports
ISSN	2229-5097
ISSN	2229-5097
DOI	10.4103/sni.sni_122_17
Database	MEDical Literature Analysis and Retrieval System OnLINE

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