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  1. Article ; Online: Management of methylmalonic acidemia (MMA) with N-carbamylglutamate: A case report from Italy.

    Tubili, Flavia / Pochiero, Francesca / Curcio, Maria Rosaria / Procopio, Elena

    Molecular genetics & genomic medicine

    2022  Volume 11, Issue 1, Page(s) e2073

    Abstract: Background: Methylmalonic acidemia (MMA) is an inborn error of metabolism whose optimal management, especially in the long-term remains to be established.: Methods: We describe the case of a child with MMA mut: Results: Using the lowest effective ... ...

    Abstract Background: Methylmalonic acidemia (MMA) is an inborn error of metabolism whose optimal management, especially in the long-term remains to be established.
    Methods: We describe the case of a child with MMA mut
    Results: Using the lowest effective therapeutic dose of CA and adjusting the patient's diet with caloric and protein intake adequate for her age and pathology, we managed to keep ammonium levels within the normal range, and to ensure a normal growth pattern.
    Conclusion: The present case adds further confirmation of the long-term management of MMA using CA, focusing on the long duration of follow up and on the use of a lower dose of CA in real life settings.
    MeSH term(s) Humans ; Child ; Female ; Amino Acid Metabolism, Inborn Errors/drug therapy ; Hyperammonemia ; Italy
    Chemical Substances N-carbamylglutamate (1188-38-1)
    Language English
    Publishing date 2022-11-04
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.2073
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Communicating a Positive Result at Newborn Screening and Parental Distress.

    Lastrucci, Elisa / Daniotti, Marta / Procopio, Elena / Scaturro, Giusi / Tubili, Flavia / Martin, Rosanna / la Marca, Giancarlo

    International journal of neonatal screening

    2023  Volume 9, Issue 3

    Abstract: The assumption of this study is strictly connected to the need to focus and to know more about the impact on the psychological state of the parents whose newborn babies get a positive result at Expanded Newborn Screening (ENS). As clinical experience ... ...

    Abstract The assumption of this study is strictly connected to the need to focus and to know more about the impact on the psychological state of the parents whose newborn babies get a positive result at Expanded Newborn Screening (ENS). As clinical experience shows us, this aspect seems to have a potentially lasting resonance on the way the disease will be managed and handled in the family, leading to potential negative effects and repercussions on the child's wellbeing and on the quality of life within the family. On the basis of this and on the evidence emerging from a review of the literature, this study aims to investigate and objectify possible distress indicators elicited at the moment of the communication of a positive result at ENS. Questionnaires containing the Beck Depression Inventory-II, the State-Trait Anxiety Inventory-Y, and the Short Form 36 Health Survey tests were administered to the parents of 87 newborns who received positive results at ENS. The parents of 32 babies expressed the presence of discomfort potentially related to the communication of a positive result at ENS.
    Language English
    Publishing date 2023-07-14
    Publishing country Switzerland
    Document type Journal Article
    ISSN 2409-515X
    ISSN (online) 2409-515X
    DOI 10.3390/ijns9030038
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.

    Montomoli, Martino / Vetro, Annalisa / Tubili, Flavia / Donati, Maria Alice / Daniotti, Marta / Pochiero, Francesca / Rivieri, Francesca / Girlando, Salvatore / Guerrini, Renzo

    European journal of medical genetics

    2023  Volume 66, Issue 8, Page(s) 104808

    Abstract: The sodium-dependent multivitamin transporter (hSMVT) encoded by the SLC5A6 gene is required for the intestinal absorption of biotin, pantothenic acid and lipoate, three micronutrients essential for normal growth and development. Systemic deficiency of ... ...

    Abstract The sodium-dependent multivitamin transporter (hSMVT) encoded by the SLC5A6 gene is required for the intestinal absorption of biotin, pantothenic acid and lipoate, three micronutrients essential for normal growth and development. Systemic deficiency of these elements, either occurring from nutritional causes or genetic defects, is associated with neurological disorders, growth delay, skin and hair changes, metabolic and immunological abnormalities. A few patients with biallelic variants of SLC5A6 have been reported, exhibiting a spectrum of neurological and systemic clinical features with variable severity. We describe three patients from a single family carrying a homozygous p.(Leu566Valfs*33) variant of SLC5A6 disrupting the frame of the C-terminal portion of the hSMVT. In these patients, we documented a severe disorder featuring developmental delay, sensory polyneuropathy, optic atrophy, recurrent infections, and repeated episodes of intestinal pseudo-obstruction. Two patients who did not receive multivitamin supplementation therapy died in early infancy. In a third patient, early supplementation of biotin and pantothenic acid stabilized the clinical picture changing the course of the disease. These findings extend genotype-phenotype correlations and show how a timely and lifelong multivitamin treatment may be crucial to reduce the risk of life-threatening events in patients with pathogenic variants of the SLC5A6 gene.
    MeSH term(s) Humans ; Biotin ; Follow-Up Studies ; Pantothenic Acid/genetics ; Pantothenic Acid/metabolism ; Phenotype ; Symporters/genetics
    Chemical Substances Biotin (6SO6U10H04) ; Pantothenic Acid (19F5HK2737) ; Symporters ; biotin transporter
    Language English
    Publishing date 2023-06-28
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2023.104808
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 84/9: 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)
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  4. Article ; Online: Incidence of Sudden Unexpected Postnatal Collapse in the Therapeutic Hypothermia Era.

    Filippi, Luca / Laudani, Emanuela / Tubili, Flavia / Calvani, Maura / Bartolini, Isabella / Donzelli, Gianpaolo

    American journal of perinatology

    2017  Volume 34, Issue 13, Page(s) 1362–1367

    MeSH term(s) Female ; Humans ; Hypothermia, Induced ; Hypoxia-Ischemia, Brain/therapy ; Incidence ; Infant, Newborn ; Italy/epidemiology ; Male ; Retrospective Studies ; Sudden Infant Death/epidemiology ; Tertiary Care Centers
    Language English
    Publishing date 2017-06-01
    Publishing country United States
    Document type Journal Article ; Multicenter Study
    ZDB-ID 605671-4
    ISSN 1098-8785 ; 0735-1631
    ISSN (online) 1098-8785
    ISSN 0735-1631
    DOI 10.1055/s-0037-1603678
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1929: 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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  5. Article ; Online: Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.

    Ardissone, Anna / Bruno, Claudio / Diodato, Daria / Donati, Alice / Ghezzi, Daniele / Lamantea, Eleonora / Lamperti, Costanza / Mancuso, Michelangelo / Martinelli, Diego / Primiano, Guido / Procopio, Elena / Rubegni, Anna / Santorelli, Filippo / Schiaffino, Maria Cristina / Servidei, Serenella / Tubili, Flavia / Bertini, Enrico / Moroni, Isabella

    Orphanet journal of rare diseases

    2021  Volume 16, Issue 1, Page(s) 413

    Abstract: Background: Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in childhood. Numerous reports on the ... ...

    Abstract Background: Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in childhood. Numerous reports on the biochemical and molecular profiles of LS have been published, but there are limited studies on genetically confirmed large series. We reviewed the clinical, imaging, biochemical and molecular data of 122 patients with a diagnosis of LS collected in the Italian Collaborative Network of Mitochondrial Diseases database.
    Results: Clinical picture was characterized by early onset of several neurological signs dominated by central nervous system involvement associated with both supra- and sub-tentorial grey matter at MRI in the majority of cases. Extraneurological organ involvement is less frequent in LS than expected for a mitochondrial disorder. Complex I and IV deficiencies were the most common biochemical diagnoses, mostly associated with mutations in SURF1 or mitochondrial-DNA genes encoding complex I subunits. Our data showed SURF1 as the genotype with the most unfavorable prognosis, differently from other cohorts reported to date.
    Conclusion: We report on a large genetically defined LS cohort, adding new data on phenotype-genotype correlation, prognostic factors and possible suggestions to diagnostic workup.
    MeSH term(s) Humans ; Italy ; Leigh Disease/diagnosis ; Leigh Disease/genetics ; Membrane Proteins/genetics ; Mitochondrial Diseases ; Mitochondrial Proteins/genetics ; Mutation/genetics
    Chemical Substances Membrane Proteins ; Mitochondrial Proteins
    Language English
    Publishing date 2021-10-09
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/s13023-021-02029-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Incidence of Sudden Unexpected Postnatal Collapse in the Therapeutic Hypothermia Era

    Filippi, Luca / Laudani, Emanuela / Tubili, Flavia / Calvani, Maura / Bartolini, Isabella / Donzelli, Gianpaolo

    American Journal of Perinatology

    2017  Volume 34, Issue 13, Page(s) 1362–1367

    Abstract: Objective: Hypothermia is considered the treatment of choice for newborns with hypoxic-ischemic encephalopathy. Even though currently no consensus exists regarding the opportunity to extend this treatment also to newborns with sudden unexpected ... ...

    Abstract Objective: Hypothermia is considered the treatment of choice for newborns with hypoxic-ischemic encephalopathy. Even though currently no consensus exists regarding the opportunity to extend this treatment also to newborns with sudden unexpected postnatal collapse (SUPC), this treatment is frequently adopted. The aim of the study was to evaluate whether the availability of hypothermia also for collapsed newborns in a tertiary level center may impact the estimated incidence of SUPC.
    Study Design: A retrospective study was performed comparing the number of newborns admitted with the diagnosis of SUPC in the tertiary referral Neonatal intensive care unit of Florence in the period before (2008–2010) and after (2011–2014) the introduction of hypothermia treatment for newborns with SUPC.
    Result: After introducing active cooling also to newborns with SUPC, the number of newborns with SUPC admitted to our center augmented and, consequently, SUPC incidence apparently increased from 5.3 to 15.5/100,000 live births, even though this difference did not reach statistical significance (odds ratio = 0.340; 95% confidence interval = 0.071–1.639; p  = 0.179).
    Conclusion: The apparent increase of SUPC incidence is probably related to a more effective centralization of newborns in our referral center but suggests that the real incidence of SUPC is probably significantly higher than currently estimated.
    Keywords therapeutic hypothermia ; SUPC ; hypoxic-ischemic encephalopathy ; newborn
    Language English
    Publishing date 2017-06-01
    Publisher Thieme Medical Publishers
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 605671-4
    ISSN 1098-8785 ; 0735-1631
    ISSN (online) 1098-8785
    ISSN 0735-1631
    DOI 10.1055/s-0037-1603678
    Database Thieme publisher's database

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1929: 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: Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.

    Ticci, Chiara / Orsucci, Daniele / Ardissone, Anna / Bello, Luca / Bertini, Enrico / Bonato, Irene / Bruno, Claudio / Carelli, Valerio / Diodato, Daria / Doccini, Stefano / Donati, Maria Alice / Dosi, Claudia / Filosto, Massimiliano / Fiorillo, Chiara / La Morgia, Chiara / Lamperti, Costanza / Marchet, Silvia / Martinelli, Diego / Minetti, Carlo /
    Moggio, Maurizio / Mongini, Tiziana Enrica / Montano, Vincenzo / Moroni, Isabella / Musumeci, Olimpia / Pancheri, Elia / Pegoraro, Elena / Primiano, Guido / Procopio, Elena / Rubegni, Anna / Scalise, Roberta / Sciacco, Monica / Servidei, Serenella / Siciliano, Gabriele / Simoncini, Costanza / Tolomeo, Deborah / Tonin, Paola / Toscano, Antonio / Tubili, Flavia / Mancuso, Michelangelo / Battini, Roberta / Santorelli, Filippo Maria

    Journal of clinical medicine

    2021  Volume 10, Issue 10

    Abstract: Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort ...

    Abstract Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Using a customized online questionnaire, we attempted to collect data from the subgroup of patients with movement disorders. Complete information was available for 102 patients. Movement disorder was the presenting feature of MD in 45 individuals, with a mean age at onset of 11 years. Ataxia was the most common movement disorder at onset, followed by dystonia, tremor, hypokinetic disorders, chorea, and myoclonus. During the disease course, most patients (67.7%) encountered a worsening of their movement disorder. Basal ganglia involvement, cerebral white matter changes, and cerebellar atrophy were the most commonly associated neuroradiological patterns. Forty-one patients harbored point mutations in the mitochondrial DNA, 10 carried mitochondrial DNA rearrangements, and 41 cases presented mutations in nuclear-DNA-encoded genes, the latter being associated with an earlier onset and a higher impairment in activities of daily living. Among our patients, 32 individuals received pharmacological treatment; clonazepam and oral baclofen were the most commonly used drugs, whereas levodopa and intrathecal baclofen administration were the most effective. A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients.
    Language English
    Publishing date 2021-05-12
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm10102063
    Database MEDical Literature Analysis and Retrieval System OnLINE

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