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  1. Article: Pathophysiology, Management and Quality of Life in Atopic Dermatitis and Psoriasis-A Challenge for Patients and Their Families.

    Callea, Michele

    Children (Basel, Switzerland)

    2022  Volume 9, Issue 5

    Abstract: In this Special Issue ... ...

    Abstract In this Special Issue of
    Language English
    Publishing date 2022-04-22
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2732685-8
    ISSN 2227-9067
    ISSN 2227-9067
    DOI 10.3390/children9050592
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Extensive dental caries and periodontal disease in a child with GATA2 deficiency.

    Consonni, Filippo / Gambineri, Eleonora / Veltroni, Marinella / Callea, Michele

    Journal of clinical and experimental dentistry

    2023  Volume 15, Issue 9, Page(s) e787–e790

    Abstract: Background: GATA2 deficiency is an inborn error of immunity (IEI) characterized by infectious susceptibility and increased risk of myelodysplasia leading to acute myeloid leukaemia (AML). Oral anomalies already described in this disorder include ... ...

    Abstract Background: GATA2 deficiency is an inborn error of immunity (IEI) characterized by infectious susceptibility and increased risk of myelodysplasia leading to acute myeloid leukaemia (AML). Oral anomalies already described in this disorder include recurrent viral and fungal infections and oral ulcers.
    Material and methods: We report a 9-year-old girl presenting with AML with myelodysplasia-related changes, monosomy 7 karyotype on marrow aspirate, numerous flat warts on her hands and multiple dental caries at oral cavity inspection. Dental evaluation and genetic testing (Sanger sequencing) for GATA2 were carried out considering the peculiar clinical presentation.
    Results: Dental evaluation showed extensive caries and periodontal disease, while genetic studies revealed a known c.1009 C>T (p.Arg337X) mutation in GATA2. After multidisciplinary discussion, affected teeth were extracted before chemotherapy, in general anaesthesia, together with scaling and root planning of the alveolar sockets. Subsequently, the patient underwent hematopoietic stem cell transplantation (HSCT) from her HLA-matched GATA2 wild-type sibling, who did not bear any dental anomalies. No dento-alveolar infections were encountered during post-chemotherapy aplasia.
    Conclusions: This case first describes the association between GATA2 deficiency and extensive dental caries with periodontal disease, highlighting the importance of an early dental evaluation and intervention in children with leukaemia.
    Language English
    Publishing date 2023-09-01
    Publishing country Spain
    Document type Case Reports
    ZDB-ID 2586647-3
    ISSN 1989-5488
    ISSN 1989-5488
    DOI 10.4317/jced.60345
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Challenges in Communicating a Genetic Diagnosis.

    Cammarata-Scalisi, Francisco / Willoughby, Colin Eric / Romano, Vito / Callea, Michele

    Children (Basel, Switzerland)

    2023  Volume 10, Issue 4

    Abstract: Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or geneticist to display good communication skills and knowledge in a moment of uncertainty and ... ...

    Abstract Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or geneticist to display good communication skills and knowledge in a moment of uncertainty and disorientation for the family group, and sometimes in an inappropriate environment or under time constraints [...].
    Language English
    Publishing date 2023-03-31
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2732685-8
    ISSN 2227-9067
    ISSN 2227-9067
    DOI 10.3390/children10040672
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Genetic variability in the case of COVID-19 infection.

    Cammarata-Scalisi, Francisco / Cárdenas Tadich, Antonio / Callea, Michele

    Archivos argentinos de pediatria

    2020  Volume 118, Issue 5, Page(s) 304–305

    Title translation Variabilidad genética frente a la infección del COVID-19.
    MeSH term(s) COVID-19 ; Coronavirus Infections/epidemiology ; Coronavirus Infections/genetics ; Coronavirus Infections/transmission ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Pandemics ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/genetics ; Pneumonia, Viral/transmission ; Polymorphism, Genetic ; Risk Factors ; Severity of Illness Index
    Keywords covid19
    Language Spanish
    Publishing date 2020-09-14
    Publishing country Argentina
    Document type Journal Article
    ZDB-ID 424449-7
    ISSN 1668-3501 ; 0325-0075 ; 0004-0487
    ISSN (online) 1668-3501
    ISSN 0325-0075 ; 0004-0487
    DOI 10.5546/aap.2020.eng.304
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 251: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Dupilumab treatment of trichothiodystrophy in a child.

    Magnaterra, Elisabetta / Giovannini, Mattia / Filippeschi, Cesare / Pedaci, Fausto Andrea / Tronconi, Greta / Callea, Michele / Ricci, Silvia / Mori, Francesca / Parpagnoli, Maria / Oranges, Teresa

    Pediatric dermatology

    2024  

    Abstract: Trichothiodystrophy (TTD) is a rare congenital disorder caused by genetic mutations, leading to hair and skin abnormalities. We report successful treatment of a TTD case using dupilumab, a monoclonal antibody targeting IL-4Rα. The patient, a 7-year-old ... ...

    Abstract Trichothiodystrophy (TTD) is a rare congenital disorder caused by genetic mutations, leading to hair and skin abnormalities. We report successful treatment of a TTD case using dupilumab, a monoclonal antibody targeting IL-4Rα. The patient, a 7-year-old boy, exhibited significant improvement in skin and hair conditions, suggesting the potential of dupilumab as a therapeutic option for TTD. Further research is needed to elucidate its mechanism and efficacy in TTD treatment.
    Language English
    Publishing date 2024-04-16
    Publishing country United States
    Document type Case Reports
    ZDB-ID 605539-4
    ISSN 1525-1470 ; 0736-8046
    ISSN (online) 1525-1470
    ISSN 0736-8046
    DOI 10.1111/pde.15612
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1882: 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: Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.

    Mc Lean, Keri / Bignotti, Stefano / Callea, Michele / Cammarata-Scalisi, Francisco / Steger, Bernhard / Armstrong, David / Lagan, Maeve / Sinton, Janet / Semeraro, Francesco / Kaye, Stephen B / Romano, Vito / Willoughby, Colin E

    Ophthalmic genetics

    2024  Volume 45, Issue 1, Page(s) 16–22

    Abstract: Background: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome.: Methods: Four patients, aged 19 to 46, with keratitis-ichthyosis- ... ...

    Abstract Background: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome.
    Methods: Four patients, aged 19 to 46, with keratitis-ichthyosis-deafness syndrome from across the UK were recruited for a general and ocular examination and GJB2 (Cx26) mutational analysis. The ocular examination included best-corrected visual acuity, slit-lamp bio-microscopy, and ocular surface assessment. Mutational analysis of the coding region of GJB2 (Cx26) was performed by bidirectional Sanger sequencing.
    Results: All four individuals had the characteristic systemic features of keratitis-ichthyosis-deafness syndrome. Each patient was found to have a missense mutation, resulting in the substitution of aspartic acid with asparagine at codon 50 (p.D50N). Main ophthalmic features were vascularizing keratopathy, ocular surface disease, hyperkeratotic lid lesions, recurrent epithelial defects, and corneal stromal scarring. One patient had multiple surgical procedures, including superficial keratectomies and lamellar keratoplasty, which failed to prevent severe visual loss. In contrast, oral therapy with ketoconazole stabilized the corneal and skin disease in two other patients with keratitis-ichthyosis-deafness syndrome. The patient who underwent intracorneal bevacizumab injection showed a marked reduction in corneal vascularization following a single application.
    Conclusions: Keratitis-ichthyosis-deafness syndrome is a rare ectodermal dysplasia caused by heterozygous mutations in GJB2 (Cx26) with a severe, progressive vascularizing keratopathy. Oral ketoconazole therapy may offer benefit in stabilizing the corneal and skin disease.
    MeSH term(s) Humans ; Connexins/genetics ; Ketoconazole/therapeutic use ; Deafness/genetics ; Ichthyosis/diagnosis ; Ichthyosis/genetics ; Ichthyosis/pathology ; Syndrome ; Keratitis/diagnosis ; Keratitis/drug therapy ; Keratitis/genetics ; Corneal Diseases ; Phenotype
    Chemical Substances Connexins ; Ketoconazole (R9400W927I)
    Language English
    Publishing date 2024-01-26
    Publishing country England
    Document type Journal Article
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.1080/13816810.2023.2258218
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1708: 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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  7. Article ; Online: Oral health in pediatric short bowel syndrome.

    Gigola, Francesca / Grimaldi, Chiara / Cairo, Francesco / Cammarata-Scalisi, Francisco / Cianci, Maria Chiara / Coletta, Riccardo / Morabito, Antonino / Callea, Michele

    Oral diseases

    2022  Volume 29, Issue 7, Page(s) 2638–2639

    MeSH term(s) Humans ; Child ; Short Bowel Syndrome/complications ; Oral Health
    Language English
    Publishing date 2022-08-23
    Publishing country Denmark
    Document type Journal Article
    ZDB-ID 1290529-x
    ISSN 1601-0825 ; 1354-523X
    ISSN (online) 1601-0825
    ISSN 1354-523X
    DOI 10.1111/odi.14326
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    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4427: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: Trisomy 21 and the coronavirus disease 2019 (COVID-19).

    Cammarata-Scalisi, Francisco / Cárdenas Tadich, Antonio / Medina, Marco / Callea, Michele

    Archivos argentinos de pediatria

    2020  Volume 118, Issue 4, Page(s) 230–231

    Title translation La trisomía 21 y la enfermedad por coronavirus de 2019 (COVID-19).
    MeSH term(s) COVID-19 ; Coronavirus Infections/epidemiology ; Coronavirus Infections/prevention & control ; Coronavirus Infections/virology ; Down Syndrome/complications ; Down Syndrome/physiopathology ; Humans ; Pandemics/prevention & control ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/prevention & control ; Pneumonia, Viral/virology ; Risk Factors
    Language Spanish
    Publishing date 2020-08-20
    Publishing country Argentina
    Document type Journal Article
    ZDB-ID 424449-7
    ISSN 1668-3501 ; 0325-0075 ; 0004-0487
    ISSN (online) 1668-3501
    ISSN 0325-0075 ; 0004-0487
    DOI 10.5546/aap.2020.eng.230
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    In stock of ZB MED Cologne/Königswinter

    Zs.B 251: Show issues Location:
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  9. Article: Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita

    Callea, Michele / Martinelli, Diego / Cammarata-Scalisi, Francisco / Grimaldi, Chiara / Jilani, Houweyda / Grimaldi, Piercesare / Willoughby, Colin Eric / Morabito, Antonino

    Genes. 2022 Mar. 11, v. 13, no. 3

    2022  

    Abstract: Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical ... ...

    Abstract Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. It may also involve immunodeficiencies, dental, pulmonary and liver disorders, and other minor complication. Dyskeratosis congenita shows marked genetic heterogeneity, as at least 14 genes are responsible for the shortening of telomeres characteristic of this disease. This review discusses clinical characteristics, molecular genetics, disease evolution, available therapeutic options and differential diagnosis of dyskeratosis congenita to provide an interdisciplinary and personalized medical assessment that includes family genetic counseling.
    Keywords bone marrow ; disease progression ; genetic heterogeneity ; immunosuppression ; liver ; molecular genetics ; phenotype ; pigmentation ; telomeres ; therapeutics
    Language English
    Dates of publication 2022-0311
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13030496
    Database NAL-Catalogue (AGRICOLA)

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  10. Article ; Online: Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela.

    Cammarata-Scalisi, Francisco / Callea, Michele / Chaudhary, Ajay Kumar / Tadich, Antonio Cárdenas / Castillo, Maykol Araya / Morabito, Antonino / Bellacchio, Emanuele / Pisaneschi, Elisa / Novelli, Antonio / Willoughby, Colin E / Bashyam, Murali Dharan

    Clinical and experimental dermatology

    2023  Volume 48, Issue 12, Page(s) 1409–1413

    MeSH term(s) Humans ; Ectodermal Dysplasia 1, Anhidrotic/genetics ; Venezuela ; Ectodermal Dysplasia/genetics ; Ectodysplasins/genetics ; Mutation ; Pedigree
    Chemical Substances Ectodysplasins
    Language English
    Publishing date 2023-06-27
    Publishing country England
    Document type Journal Article
    ZDB-ID 195504-4
    ISSN 1365-2230 ; 0307-6938
    ISSN (online) 1365-2230
    ISSN 0307-6938
    DOI 10.1093/ced/llad218
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1278: Show issues Location:
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