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  1. Article ; Online: Desmosomes in heart and skin: friends or foes?

    Caiazzo, Giuseppina / De Simone, Rosa Redenta / Monda, Emanuele / Barretta, Ferdinando / Uomo, Fabiana / Mazzaccara, Cristina / Megna, Matteo / Giuseppe, Limongelli / Frisso, Giulia

    Journal of translational medicine

    2024  Volume 22, Issue 1, Page(s) 357

    MeSH term(s) Humans ; Desmosomes ; Skin ; Heart
    Language English
    Publishing date 2024-04-16
    Publishing country England
    Document type Letter
    ZDB-ID 2118570-0
    ISSN 1479-5876 ; 1479-5876
    ISSN (online) 1479-5876
    ISSN 1479-5876
    DOI 10.1186/s12967-024-05137-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

    Barretta, Ferdinando / Uomo, Fabiana / Caldora, Filomena / Mocerino, Rossella / Adamo, Daniela / Testa, Francesco / Simonelli, Francesca / Scudiero, Olga / Tinto, Nadia / Frisso, Giulia / Mazzaccara, Cristina

    Genes (Basel). 2023 May 15, v. 14, no. 5

    2023  

    Abstract: Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with ... ...

    Abstract Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of a custom blended MITOchondrial-NUCLEAR (MITO-NUCLEAR) assay for the simultaneous identification of genetic variants both in whole mtDNA and in nuclear genes included in a clinic exome panel. Furthermore, the MITO-NUCLEAR assay, implemented in our diagnostic process, has allowed us to arrive at a molecular diagnosis in a young patient. Methods: Massive sequencing strategy was applied for the validation experiments, performed using multiple tissues (blood, buccal swab, fresh tissue, tissue from slide, and formalin-fixed paraffin-embedded tissue section) and two different blend-in ratios of the mitochondrial probes: nuclear probes; 1:900 and 1:300. Results: Data suggested that 1:300 was the optimal probe dilution, where 100% of the mtDNA was covered at least 3000×, the median coverage was >5000×, and 93.84% of nuclear regions were covered at least 100×. Conclusions: Our custom Agilent SureSelect MITO-NUCLEAR panel provides a potential “one-step” investigation that may be applied to both research and genetic diagnosis of MDs, allowing the simultaneous discovery of nuclear and mitochondrial mutations.
    Keywords blood ; mitochondria ; mitochondrial genome ; patients
    Language English
    Dates of publication 2023-0515
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14051087
    Database NAL-Catalogue (AGRICOLA)

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  3. Article ; Online: Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy

    Barretta, Ferdinando / Uomo, Fabiana / Fecarotta, Simona / Albano, Lucia / Crisci, Daniela / Verde, Alessandra / Fisco, Maria Grazia / Gallo, Giovanna / Dottore Stagna, Daniela / Pricolo, Maria Rosaria / Alagia, Marianna / Terrone, Gaetano / Rossi, Alessandro / Parenti, Giancarlo / Ruoppolo, Margherita / Mazzaccara, Cristina / Frisso, Giulia

    Genes (Basel). 2023 Apr. 26, v. 14, no. 5

    2023  

    Abstract: Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop ... ...

    Abstract Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and premature vascular disease. Timely diagnosis through NBS allows early treatment, resulting in improved outcomes. Methods: we report the diagnostic yield of genetic testing for MTHFR deficiency diagnosis, in a reference Centre of Southern Italy between 2017 and 2022. MTHFR deficiency was suspected in four newborns showing hypomethioninemia and hyperhomocysteinemia; otherwise, one patient born in pre-screening era showed clinical symptoms and laboratory signs that prompted to perform genetic testing for MTHFR deficiency. Results: molecular analysis of the MTHFR gene revealed a genotype compatible with MTHFR deficiency in two NBS-positive newborns and in the symptomatic patient. This allowed for promptly beginning the adequate metabolic therapy. Conclusions: our results strongly support the need for genetic testing to quickly support the definitive diagnosis of MTHFR deficiency and start therapy. Furthermore, our study extends knowledge of the molecular epidemiology of MTHFR deficiency by identifying a novel mutation in the MTHFR gene.
    Keywords early diagnosis ; genes ; genotype ; metabolic diseases ; methylenetetrahydrofolate reductase ; molecular epidemiology ; mutation ; neonates ; patients ; therapeutics ; Italy
    Language English
    Dates of publication 2023-0426
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14050980
    Database NAL-Catalogue (AGRICOLA)

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  4. Article ; Online: Prenatal diagnosis of HNF1b mutation allows recognition of neonatal dysglycemia.

    Iafusco, Fernanda / Meola, Serena / Pecoraro, Carmine / Mazzaccara, Cristina / Iafusco, Dario / Tinto, Nadia

    Acta diabetologica

    2020  Volume 58, Issue 3, Page(s) 393–395

    Language English
    Publishing date 2020-12-01
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1097676-0
    ISSN 1432-5233 ; 0940-5429
    ISSN (online) 1432-5233
    ISSN 0940-5429
    DOI 10.1007/s00592-020-01641-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Salivary Complaints in Burning Mouth Syndrome: A Cross Sectional Study on 500 Patients.

    Canfora, Federica / Calabria, Elena / Spagnuolo, Gianrico / Coppola, Noemi / Armogida, Niccolò Giuseppe / Mazzaccara, Cristina / Solari, Domenico / D'Aniello, Luca / Aria, Massimo / Pecoraro, Giuseppe / Mignogna, Michele Davide / Leuci, Stefania / Adamo, Daniela

    Journal of clinical medicine

    2023  Volume 12, Issue 17

    Abstract: Background: Xerostomia and sialorrhea often accompany Burning Mouth Syndrome (BMS) despite no change in saliva quantity. This study analyzed BMS patients with different symptom combinations: burning only (B), burning and xerostomia (BX), burning and ... ...

    Abstract Background: Xerostomia and sialorrhea often accompany Burning Mouth Syndrome (BMS) despite no change in saliva quantity. This study analyzed BMS patients with different symptom combinations: burning only (B), burning and xerostomia (BX), burning and sialorrhea (BS), and burning with xerostomia and sialorrhea (BXS), using a large sample of 500 patients from the University of Naples Federico II.
    Methods: After a medical evaluation, patients were divided into four groups based on their reported symptoms: B (140), BX (253), BS (49), and BXS (58). Patient data on education, BMI, smoking/alcohol habits, comorbidities, medication use, pain intensity, quality, and psychological profile were collected.
    Results: The BX group showed a higher prevalence of patients taking blood thinners. Additional symptoms varied among groups, with the BX group experiencing more dysgeusia and globus, and the BS group reporting more tingling. Multivariate analysis identified BMI, dysgeusia, globus, and blood thinner use as significant factors in the B and BX groups, while male gender, tingling, alcohol use, and pain quality were significant in the BS and BXS groups.
    Conclusions: Overall, BMS patients display a complex range of symptoms, with xerostomia being the most frequent additional symptom. Sociodemographic, psychological, and medical factors cannot fully explain the variations in symptomatology among different patient subgroups. Further research is needed to understand the underlying causes and develop tailored treatment approaches.
    Language English
    Publishing date 2023-08-26
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12175561
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Prevalence of hypertension and correlation with mental health in women with burning mouth syndrome: A case-control study.

    Canfora, Federica / Calabria, Elena / Pecoraro, Giuseppe / Leuci, Stefania / Coppola, Noemi / Mazzaccara, Cristina / Spirito, Francesca / Aria, Massimo / D'Aniello, Luca / Mignogna, Michele Davide / Adamo, Daniela

    Frontiers in cardiovascular medicine

    2023  Volume 9, Page(s) 969148

    Abstract: Background: The relationship between hypertension (HTN) and chronic pain is still a matter of debate, and its prevalence in patients with burning mouth syndrome (BMS) has never been evaluated. This study aimed to assess the prevalence of HTN in women ... ...

    Abstract Background: The relationship between hypertension (HTN) and chronic pain is still a matter of debate, and its prevalence in patients with burning mouth syndrome (BMS) has never been evaluated. This study aimed to assess the prevalence of HTN in women with BMS and to evaluate its relationship with potential predictors such as risk factors for cardiovascular diseases, pain, and mental health status analyzing differences with healthy women.
    Methods: In total, 250 women with BMS (WBMS) were prospectively recruited and compared with an equal number of healthy women (HW) matched for age. Education, body mass index, smoke and alcohol consumption, intensity and quality of pain, and psychological profile were further investigated to identify the potential predictors of HTN. Specifically, pain assessment [the Numeric Rating Scale (NRS) and Short-Form McGill Pain Questionnaire (SF-MPQ)] and psychological assessment [Hamilton Rating Scale for Depression and Anxiety (HAM-D and HAM-A), Pittsburgh Sleep Quality Index (PSQI), and Epworth Sleepiness Scale (ESS)] was carried out for the participants.
    Results: HTN was found in 128 (51.2%) WBMS and 76 (30.4%) HW (
    Conclusion: These results suggest that WBMS showed a higher prevalence of HTN compared with controls. Unemployed WBMS with lower education and other systemic comorbidities are at an increased risk of developing HTN. HTN is associated with alteration in the vascular structure and function of the brain, and these processes accelerate brain aging, which contributes to a reduction in intracortical connectivity, thus affecting the modulatory system of control of pain in patients with BMS, independently of their mental health assessment. Predictors that may underlie this association remain unclear, taking into account the differences found in HW, and should be further elucidated.
    Language English
    Publishing date 2023-01-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2781496-8
    ISSN 2297-055X
    ISSN 2297-055X
    DOI 10.3389/fcvm.2022.969148
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Integrated Approach to Highlighting the Molecular Bases of a Deep Vein Thrombosis Event in an Elite Basketball Athlete.

    Mennitti, Cristina / Miele, Ciro / Scarano, Carmela / Veneruso, Iolanda / Gentile, Alessandro / Mormile, Rosaria / Saviano, Francesca / D'Alicandro, Giovanni / Mazzaccara, Cristina / Frisso, Giulia / Capasso, Filomena / D'Argenio, Valeria / Scudiero, Olga

    International journal of molecular sciences

    2023  Volume 24, Issue 15

    Abstract: Acute or intense exercise can result in metabolic imbalances, muscle injuries, or reveal hidden disorders. Laboratory medicine in sports is playing an increasingly crucial role in monitoring athletes' health conditions. In this study, we designed an ... ...

    Abstract Acute or intense exercise can result in metabolic imbalances, muscle injuries, or reveal hidden disorders. Laboratory medicine in sports is playing an increasingly crucial role in monitoring athletes' health conditions. In this study, we designed an integrated approach to explore the causes of a deep venous thrombosis event in an elite basketball player. Since the complete blood count revealed a marked platelet count (838 × 10
    MeSH term(s) Humans ; von Willebrand Diseases ; Basketball ; Thrombophilia/complications ; Thrombocythemia, Essential ; Venous Thrombosis/genetics ; Athletes ; von Willebrand Factor/metabolism
    Chemical Substances von Willebrand Factor
    Language English
    Publishing date 2023-07-31
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms241512256
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

    Barretta, Ferdinando / Uomo, Fabiana / Caldora, Filomena / Mocerino, Rossella / Adamo, Daniela / Testa, Francesco / Simonelli, Francesca / Scudiero, Olga / Tinto, Nadia / Frisso, Giulia / Mazzaccara, Cristina

    Genes

    2023  Volume 14, Issue 5

    Abstract: Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with ... ...

    Abstract Background: Next-generation sequencing (NGS) technology is revolutionizing diagnostic screening for mitochondrial diseases (MDs). Moreover, an investigation by NGS still requires analyzing the mitochondrial genome and nuclear genes separately, with limitations in terms of time and costs. We describe the validation and implementation of a custom blended MITOchondrial-NUCLEAR (MITO-NUCLEAR) assay for the simultaneous identification of genetic variants both in whole mtDNA and in nuclear genes included in a clinic exome panel. Furthermore, the MITO-NUCLEAR assay, implemented in our diagnostic process, has allowed us to arrive at a molecular diagnosis in a young patient.
    Methods: Massive sequencing strategy was applied for the validation experiments, performed using multiple tissues (blood, buccal swab, fresh tissue, tissue from slide, and formalin-fixed paraffin-embedded tissue section) and two different blend-in ratios of the mitochondrial probes: nuclear probes; 1:900 and 1:300.
    Results: Data suggested that 1:300 was the optimal probe dilution, where 100% of the mtDNA was covered at least 3000×, the median coverage was >5000×, and 93.84% of nuclear regions were covered at least 100×.
    Conclusions: Our custom Agilent SureSelect MITO-NUCLEAR panel provides a potential "one-step" investigation that may be applied to both research and genetic diagnosis of MDs, allowing the simultaneous discovery of nuclear and mitochondrial mutations.
    MeSH term(s) Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mitochondria/genetics ; DNA, Mitochondrial/genetics ; Mutation ; High-Throughput Nucleotide Sequencing/methods
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2023-05-15
    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/genes14051087
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: NGS Analysis Revealed Digenic Heterozygous

    Iafusco, Fernanda / Maione, Giovanna / Mazzaccara, Cristina / Di Candia, Francesca / Mozzillo, Enza / Franzese, Adriana / Tinto, Nadia

    Diagnostics (Basel, Switzerland)

    2021  Volume 11, Issue 7

    Abstract: Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is predominantly caused by a mutation in a single gene. We report a case of a female patient with suspected ... ...

    Abstract Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is predominantly caused by a mutation in a single gene. We report a case of a female patient with suspected MD and a positive family history for diabetes and obesity. In this patient, two gene variants have been identified by next-generation sequencing (NGS): one in the Glucokinase (
    Language English
    Publishing date 2021-06-25
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2662336-5
    ISSN 2075-4418
    ISSN 2075-4418
    DOI 10.3390/diagnostics11071164
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

    Mazzaccara, Cristina / Mirra, Bruno / Barretta, Ferdinando / Caiazza, Martina / Lombardo, Barbara / Scudiero, Olga / Tinto, Nadia / Limongelli, Giuseppe / Frisso, Giulia

    International journal of molecular sciences

    2021  Volume 22, Issue 11

    Abstract: Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical, ... ...

    Abstract Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical, laboratory, and neuroimaging investigations. Currently, the molecular screening for MCM is fundamental part of MDs management and allows achieving the definitive diagnosis. In this article, we review the current genetic knowledge associated with MDs, focusing on diagnosis of MCM and MDs showing cardiac involvement. We searched for publications on mitochondrial and nuclear genes involved in MCM, mainly focusing on genetic screening based on targeted gene panels for the molecular diagnosis of the MCM, by using Next Generation Sequencing. Here we report twelve case reports, four case-control studies, eleven retrospective studies, and two prospective studies, for a total of twenty-nine papers concerning the evaluation of cardiac manifestations in mitochondrial diseases. From the analysis of published causal mutations, we identified 130 genes to be associated with mitochondrial heart diseases. A large proportion of these genes (34.3%) encode for key proteins involved in the oxidative phosphorylation system (OXPHOS), either as directly OXPHOS subunits (22.8%), and as OXPHOS assembly factors (11.5%). Mutations in several mitochondrial tRNA genes have been also reported in multi-organ or isolated MCM (15.3%). This review highlights the main disease-genes, identified by extensive genetic analysis, which could be included as target genes in next generation panels for the molecular diagnosis of patients with clinical suspect of mitochondrial cardiomyopathies.
    MeSH term(s) Alleles ; Cardiomyopathies/diagnosis ; Cardiomyopathies/epidemiology ; Cardiomyopathies/etiology ; Disease Susceptibility ; Genes, Mitochondrial ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Mitochondria/genetics ; Mitochondria/metabolism ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/epidemiology ; Mitochondrial Diseases/etiology ; Molecular Epidemiology ; Mutation ; Organ Specificity ; Phenotype
    Language English
    Publishing date 2021-05-27
    Publishing country Switzerland
    Document type Journal Article ; Meta-Analysis ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22115742
    Database MEDical Literature Analysis and Retrieval System OnLINE

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