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  1. Article ; Online: PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.

    Martín-Valbuena, Jesús / Gestoso-Uzal, Nerea / Justel-Rodríguez, María / Isidoro-García, María / Marcos-Vadillo, Elena / Lorenzo-Hernández, Sandra Milagros / Criado-Muriel, M Carla / Prieto-Matos, Pablo

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

    2024  

    Abstract: Objective: The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS).: Patients and methods: Eleven patients with genetic diagnostic of PHTS were recruited ... ...

    Abstract Objective: The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS).
    Patients and methods: Eleven patients with genetic diagnostic of PHTS were recruited between February 2019 and April 2023. Clinical, imaging, demographic, and genetic data were retrospectively collected from their hospital medical history.
    Results: Regarding clinical manifestations, macrocephaly was the leading sign, present in all patients. Frontal bossing was the most frequent dysmorphism. Neurological issues were present in most patients. Dental malformations were described for the first time, being present in 27% of the patients. Brain MRI showed anomalies in 57% of the patients. No tumoral lesions were present at the time of the study. Regarding genetics, 72% of the alterations were in the tensin-type C2 domain of PTEN protein. We identified four PTEN genetic alterations for the first time.
    Conclusions: PTEN mutations appear with a wide variety of clinical signs and symptoms, sometimes associated with phenotypes which do not fit classical clinical diagnostic criteria for PHTS. We recommend carrying out a genetic study to establish an early diagnosis in children with significant macrocephaly. This facilitates personalized monitoring and enables anticipation of potential PHTS-related complications.
    Language English
    Publishing date 2024-02-26
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 605988-0
    ISSN 1433-0350 ; 0302-2803 ; 0256-7040
    ISSN (online) 1433-0350
    ISSN 0302-2803 ; 0256-7040
    DOI 10.1007/s00381-024-06301-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2036: 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: A mutation in p62 protein (p. R321C), associated to Paget's disease of bone, causes a blockade of autophagy and an activation of NF-kB pathway.

    Usategui-Martín, Ricardo / Gestoso-Uzal, Nerea / Calero-Paniagua, Ismael / De Pereda, José María / Del Pino-Montes, Javier / González-Sarmiento, Rogelio

    Bone

    2020  Volume 133, Page(s) 115265

    Abstract: Paget's disease of bone (PDB) is a bone disorder characterized by an increase in bone turnover in a disorganized way with a large increase in bone resorption followed by bone formation. The most important known genetic factor predisposing to PDB is ... ...

    Abstract Paget's disease of bone (PDB) is a bone disorder characterized by an increase in bone turnover in a disorganized way with a large increase in bone resorption followed by bone formation. The most important known genetic factor predisposing to PDB is mutation in Sequestosome1 (SQSTM1) gene. We have studied the prevalence of SQSTM1 mutations and examined genotype-phenotype correlations in a Spanish cohort of PDB patients. Also, we have characterized three PDB patients that carry the c.961C>T SQSTM1 gene mutation that it is localized in exon 6 of SQSTM1 gene and it causes the p. R321C mutation. This mutation has been reported in patients with amyotrophic lateral sclerosis and frontotemporal dementia but in our knowledge this is the first time that p62 p. R321C mutation is associated to PDB. We show that p62 p.R321C mutation could induce blockage of autophagy and cell proliferation through NF-kB pathway. These results reinforce the hypothesis of autophagy involvement in Paget's disease of bone.
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Autophagy/genetics ; Humans ; Mutation/genetics ; NF-kappa B/metabolism ; Osteitis Deformans/genetics ; RNA-Binding Proteins ; Sequestosome-1 Protein/genetics
    Chemical Substances Adaptor Proteins, Signal Transducing ; NF-kappa B ; P62 protein, human ; RNA-Binding Proteins ; Sequestosome-1 Protein
    Language English
    Publishing date 2020-02-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 632515-4
    ISSN 1873-2763 ; 8756-3282
    ISSN (online) 1873-2763
    ISSN 8756-3282
    DOI 10.1016/j.bone.2020.115265
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1571: 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)
    Zs.MO 332: Show issues

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  3. Article: Recurrent

    Pérez-García, Jésica / Martel-Martel, Abel / García-Vallés, Paula / Corchete, Luis A / García, Juan L / Gestoso-Uzal, Nerea / Vidal-Tocino, Rosario / Blanco, Óscar / Méndez, Lucía / Sánchez-Martín, Manuel / Fuentes, Manuel / Herrero, Ana B / Holowatyj, Andreana N / Perea, José / González-Sarmiento, Rogelio

    Cancers

    2022  Volume 14, Issue 16

    Abstract: The incidence of early-onset colorectal cancer (EOCRC; age younger than 50 years) has been progressively increasing over the last decades globally, with causes unexplained. A distinct molecular feature of EOCRC is that compared with cases of late-onset ... ...

    Abstract The incidence of early-onset colorectal cancer (EOCRC; age younger than 50 years) has been progressively increasing over the last decades globally, with causes unexplained. A distinct molecular feature of EOCRC is that compared with cases of late-onset colorectal cancer, in EOCRC cases, there is a higher incidence of
    Language English
    Publishing date 2022-08-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers14164029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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