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  1. Article ; Online: Giant non-parasitic mixed splenic cyst in a child.

    Cleva, Mirco / Vaivoda, Anna / Boscarelli, Alessandro / Codrich, Daniela / Spezzacatene, Anita / Murru, Flora M

    Journal of paediatrics and child health

    2022  Volume 59, Issue 1, Page(s) 175–177

    MeSH term(s) Humans ; Child ; Splenic Diseases/diagnostic imaging ; Cysts/diagnostic imaging ; Splenectomy
    Language English
    Publishing date 2022-09-20
    Publishing country Australia
    Document type Case Reports
    ZDB-ID 1024476-1
    ISSN 1440-1754 ; 1034-4810
    ISSN (online) 1440-1754
    ISSN 1034-4810
    DOI 10.1111/jpc.16220
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 227: 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)

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  2. Article ; Online: Adolescent with recurrent knee pain.

    Mazzolai, Michele / Murru, Flora M / Rabach, Ingrid / Barbi, Egidio / Cozzi, Giorgio

    Journal of paediatrics and child health

    2020  Volume 56, Issue 9, Page(s) 1483

    Language English
    Publishing date 2020-09-19
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 1024476-1
    ISSN 1440-1754 ; 1034-4810
    ISSN (online) 1440-1754
    ISSN 1034-4810
    DOI 10.1111/jpc.1_14866
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 227: 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)

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  3. Article: The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

    Musante, Luciana / Costa, Paola / Zanus, Caterina / Faletra, Flavio / Murru, Flora M. / Bianco, Anna M. / La Bianca, Martina / Ragusa, Giulia / Athanasakis, Emmanouil / d’Adamo, Adamo P. / Carrozzi, Marco / Gasparini, Paolo

    Genes. 2022 Mar. 12, v. 13, no. 3

    2022  

    Abstract: Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery of ... ...

    Abstract Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery of numerous genes involved in these conditions. However, more than 50% of patients remained undiagnosed. A major obstacle lies in the high degree of genetic heterogeneity and the wide phenotypic variability that has characterized these disorders. Interpreting a large amount of NGS data is also a crucial challenge. This study describes a dynamic diagnostic procedure used to investigate 17 patients with DEE or EE with previous negative or inconclusive genetic testing by whole-exome sequencing (WES), leading to a definite diagnosis in about 59% of participants. Biallelic mutations caused most of the diagnosed cases (50%), and a pathogenic somatic mutation resulted in 10% of the subjects. The high diagnostic yield reached highlights the relevance of the scientific approach, the importance of the reverse phenotyping strategy, and the involvement of a dedicated multidisciplinary team. The study emphasizes the role of recessive and somatic variants, new genetic mechanisms, and the complexity of genotype–phenotype associations. In older patients, WES results could end invasive diagnostic procedures and allow a more accurate transition. Finally, an early pursued diagnosis is essential for comprehensive care of patients, precision approach, knowledge of prognosis, patient and family planning, and quality of life.
    Keywords genetic heterogeneity ; genotype-phenotype correlation ; patients ; phenotype ; phenotypic variation ; prognosis ; quality of life ; somatic mutation
    Language English
    Dates of publication 2022-0312
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13030500
    Database NAL-Catalogue (AGRICOLA)

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  4. Article ; Online: The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

    Musante, Luciana / Costa, Paola / Zanus, Caterina / Faletra, Flavio / Murru, Flora M / Bianco, Anna M / La Bianca, Martina / Ragusa, Giulia / Athanasakis, Emmanouil / d'Adamo, Adamo P / Carrozzi, Marco / Gasparini, Paolo

    Genes

    2022  Volume 13, Issue 3

    Abstract: Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery of ... ...

    Abstract Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery of numerous genes involved in these conditions. However, more than 50% of patients remained undiagnosed. A major obstacle lies in the high degree of genetic heterogeneity and the wide phenotypic variability that has characterized these disorders. Interpreting a large amount of NGS data is also a crucial challenge. This study describes a dynamic diagnostic procedure used to investigate 17 patients with DEE or EE with previous negative or inconclusive genetic testing by whole-exome sequencing (WES), leading to a definite diagnosis in about 59% of participants. Biallelic mutations caused most of the diagnosed cases (50%), and a pathogenic somatic mutation resulted in 10% of the subjects. The high diagnostic yield reached highlights the relevance of the scientific approach, the importance of the reverse phenotyping strategy, and the involvement of a dedicated multidisciplinary team. The study emphasizes the role of recessive and somatic variants, new genetic mechanisms, and the complexity of genotype-phenotype associations. In older patients, WES results could end invasive diagnostic procedures and allow a more accurate transition. Finally, an early pursued diagnosis is essential for comprehensive care of patients, precision approach, knowledge of prognosis, patient and family planning, and quality of life.
    MeSH term(s) Aged ; Brain Diseases/genetics ; Genetic Association Studies ; Genetic Testing/methods ; Humans ; Quality of Life ; Whole Exome Sequencing/methods
    Language English
    Publishing date 2022-03-12
    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/genes13030500
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Infant With Inconsolable Cryinge.

    Cerrina, Alessia / Murru, Flora M / Conte, Mariasole / Agrusti, Anna / Germani, Claudio / Schleef, Jurgen / Pederiva, Federica

    Annals of emergency medicine

    2020  Volume 77, Issue 1, Page(s) e58–e59

    MeSH term(s) Crying ; Emergency Service, Hospital ; Female ; Humans ; Infant ; Intestinal Volvulus/complications ; Intestinal Volvulus/diagnosis ; Intestinal Volvulus/diagnostic imaging ; Intestinal Volvulus/surgery ; Meckel Diverticulum/complications ; Meckel Diverticulum/diagnosis ; Meckel Diverticulum/diagnostic imaging ; Meckel Diverticulum/surgery ; Radiography, Abdominal ; Ultrasonography
    Language English
    Publishing date 2020-12-21
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 603080-4
    ISSN 1097-6760 ; 0196-0644
    ISSN (online) 1097-6760
    ISSN 0196-0644
    DOI 10.1016/j.annemergmed.2020.06.030
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1344: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article ; Online: A boy with acute strabismus.

    Poropat, Federico / Ventura, Giovanna / Murru, Flora M / Orzan, Eva / Maschio, Massimo

    The Journal of pediatrics

    2012  Volume 161, Issue 6, Page(s) 1178

    MeSH term(s) Acute Disease ; Child ; Humans ; Magnetic Resonance Imaging ; Male ; Mucocele/complications ; Mucocele/diagnosis ; Strabismus/etiology
    Language English
    Publishing date 2012-12
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2012.06.055
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Um IV Zs.116: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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