LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 88

Search options

  1. Article ; Online: The new Nosology and classification of genetic skeletal disorders.

    Cammarata-Scalisi, Francisco

    Archivos argentinos de pediatria

    2020  Volume 118, Issue 2, Page(s) 86–88

    Title translation La nueva Nosología y clasificación de las displasias esqueléticas.
    MeSH term(s) Bone Diseases, Developmental/classification ; Bone Diseases, Developmental/diagnosis ; Bone Diseases, Developmental/genetics ; Genetic Markers ; Genotype ; Humans ; Phenotype
    Chemical Substances Genetic Markers
    Language Spanish
    Publishing date 2020-03-21
    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.86
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 251: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. 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

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Trisomy 9p. A brief clinical, diagnostic and therapeutic description.

    Cammarata-Scalisi, Francisco

    Archivos argentinos de pediatria

    2019  Volume 117, Issue 5, Page(s) e473–e476

    Abstract: Trisomy 9p is characterized by the partial or complete duplication of the short arm of chromosome 9. It is one of the most common autosomal structural abnormalities in newborn infants. This is a relatively poor gene region, so it may be more compatible ... ...

    Title translation Trisomía 9p. Una breve descripción clínica, diagnóstica y terapéutica.
    Abstract Trisomy 9p is characterized by the partial or complete duplication of the short arm of chromosome 9. It is one of the most common autosomal structural abnormalities in newborn infants. This is a relatively poor gene region, so it may be more compatible with survival. It is characterized by delayed mental and psychomotor growth, craniofacial dysmorphisms, skeletal alterations, central nervous system abnormalities, congenital heart disease, and, to a lesser extent, kidney disorders. To establish a diagnosis, it is necessary to perform a cytogenetic study with G bands and, if available, fluorescence in situ hybridization complemented with comparative genomic hybridization for a better understanding of the genotype-phenotype correlation. Assessment should be interdisciplinary and encompassing a timely family genetic counseling, together with available therapeutic options in an early manner.
    MeSH term(s) Chromosomes, Human, Pair 9/genetics ; Comparative Genomic Hybridization ; Cytogenetic Analysis/methods ; Genetic Counseling ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Trisomy/diagnosis ; Trisomy/genetics ; Trisomy/physiopathology
    Language Spanish
    Publishing date 2019-08-28
    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.2019.eng.e473
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 251: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  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

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 251: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. 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

    More links

    Kategorien

    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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. 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
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 251: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  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
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 4427: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article ; Online: Main genetic entities associated with supernumerary teeth.

    Cammarata-Scalisi, Francisco / Avendaño, Andrea / Callea, Michele

    Archivos argentinos de pediatria

    2018  Volume 116, Issue 6, Page(s) 437–444

    Abstract: Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than ...

    Title translation Principales entidades genéticas asociadas con dientes supernumerarios.
    Abstract Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than females. The etiology is heterogeneous, highly variable and most of the cases are idiopathic. However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial displasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein-Taybi syndrome, Nance-Horan syndrome, Opitz G/BBB syndrome, oculofaciocardiodental syndrome and Robinow syndrome (autosomal dominant). The supernumerary teeth should be considered in order to possibly diagnose these entities with the aim of offering an interdisciplinary management and treatment, as well as offer adequate family genetic counseling.
    MeSH term(s) Female ; Genetic Counseling/methods ; Humans ; Male ; Prevalence ; Syndrome ; Tooth, Impacted/epidemiology ; Tooth, Impacted/etiology ; Tooth, Supernumerary/epidemiology ; Tooth, Supernumerary/etiology ; Tooth, Supernumerary/genetics
    Language Spanish
    Publishing date 2018-11-20
    Publishing country Argentina
    Document type Journal Article ; Review
    ZDB-ID 424449-7
    ISSN 1668-3501 ; 0325-0075 ; 0004-0487
    ISSN (online) 1668-3501
    ISSN 0325-0075 ; 0004-0487
    DOI 10.5546/aap.2018.eng.437
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 251: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: 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  Volume 13, Issue 3

    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.
    MeSH term(s) Dyskeratosis Congenita/diagnosis ; Dyskeratosis Congenita/genetics ; Dyskeratosis Congenita/pathology ; Humans ; Leukoplakia, Oral/complications ; Leukoplakia, Oral/pathology ; Nails, Malformed ; Rare Diseases/diagnosis ; Rare Diseases/genetics ; Telomere
    Language English
    Publishing date 2022-03-11
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13030496
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article: Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.

    Callea, Michele / Bignotti, Stefano / Semeraro, Francesco / Cammarata-Scalisi, Francisco / El-Feghaly, Jinia / Morabito, Antonino / Romano, Vito / Willoughby, Colin E

    Children (Basel, Switzerland)

    2022  Volume 9, Issue 9

    Abstract: The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by ... ...

    Abstract The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat gland deficiency. HED is estimated to affect at least 1 in 17,000 people worldwide. Patients with HED have characteristic facies with periorbital hyperpigmentation, depressed nasal bridge, malar hypoplasia, and absent or sparse eyebrows and eyelashes. The common ocular features of HED include madarosis, trichiasis, and ocular chronic surface disease due to dry eye syndrome, which manifests clinically with discomfort, photophobia, and redness. Dry eye is common in HED and results from a combination of ocular surface defects: mucus abnormalities (abnormal conjunctival mucinous glands), aqueous tear deficiency (abnormalities in the lacrimal gland) and lipid deficiency (due to the partial or total absence of the meibomian glands; modified sebaceous glands with the tarsal plate). Sight-threatening complications result from ocular surface disease, including corneal ulceration and perforation with subsequent corneal scarring and neovascularization. Rare ocular features have been reported and include bilateral or unilateral congenital cataracts, bilateral glaucoma, chorioretinal atrophy and atresia of the nasolacrimal duct. Recognition of the ocular manifestations of HED is required to perform clinical surveillance, instigate supportive and preventative treatment, and manage ocular complications.
    Language English
    Publishing date 2022-09-06
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2732685-8
    ISSN 2227-9067
    ISSN 2227-9067
    DOI 10.3390/children9091357
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top