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  1. Article: The Atlas of Monogenic Epilepsies

    Praticò, Andrea D.

    Journal of Pediatric Neurology

    (Pediatric Neuroradiology)

    2023  Volume 21, Issue 03, Page(s) 145–145

    Series title Pediatric Neuroradiology
    Language English
    Publishing date 2023-04-27
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 1875-9041 ; 1304-2580
    ISSN (online) 1875-9041
    ISSN 1304-2580
    DOI 10.1055/s-0043-57242
    Database Thieme publisher's database

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  2. Article ; Online: COVID-19 pandemic for Pediatric Health Care: disadvantages and opportunities.

    Praticò, Andrea D

    Pediatric research

    2020  Volume 89, Issue 4, Page(s) 709–710

    MeSH term(s) Adolescent ; COVID-19/epidemiology ; COVID-19/therapy ; COVID-19/virology ; Child ; Delivery of Health Care ; Humans ; Pandemics ; Pediatrics ; SARS-CoV-2/isolation & purification
    Keywords covid19
    Language English
    Publishing date 2020-05-15
    Publishing country United States
    Document type Editorial
    ZDB-ID 4411-8
    ISSN 1530-0447 ; 0031-3998
    ISSN (online) 1530-0447
    ISSN 0031-3998
    DOI 10.1038/s41390-020-0955-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 564: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 373: Show issues

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  4. Article ; Online: COVID-19 vaccination for children: may be necessary for the full eradication of the disease.

    Praticò, Andrea D / Ruggieri, Martino

    Pediatric research

    2021  Volume 90, Issue 6, Page(s) 1102–1103

    MeSH term(s) Adolescent ; Age Factors ; COVID-19/immunology ; COVID-19/prevention & control ; COVID-19/virology ; COVID-19 Vaccines/administration & dosage ; COVID-19 Vaccines/adverse effects ; Child ; Disease Eradication ; Female ; Host-Pathogen Interactions ; Humans ; Immunity, Herd ; Male ; Mass Vaccination/adverse effects ; Program Evaluation ; Risk Assessment ; Risk Factors ; SARS-CoV-2/immunology ; SARS-CoV-2/pathogenicity ; Time Factors
    Chemical Substances COVID-19 Vaccines
    Language English
    Publishing date 2021-07-12
    Publishing country United States
    Document type Letter
    ZDB-ID 4411-8
    ISSN 1530-0447 ; 0031-3998
    ISSN (online) 1530-0447
    ISSN 0031-3998
    DOI 10.1038/s41390-021-01643-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 564: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Zs.MO 373: Show issues

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  5. Article ; Online: COVID-19 pandemic for Pediatric Health Care

    Praticò, Andrea D.

    Pediatric Research ; ISSN 0031-3998 1530-0447

    disadvantages and opportunities

    2020  

    Keywords Pediatrics, Perinatology, and Child Health ; covid19
    Language English
    Publisher Springer Science and Business Media LLC
    Publishing country us
    Document type Article ; Online
    DOI 10.1038/s41390-020-0955-x
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article: Case report: A gain-of-function of hamartin may lead to a distinct "inverse

    Praticò, Andrea D / Falsaperla, Raffaele / Comella, Mattia / Belfiore, Giuseppe / Polizzi, Agata / Ruggieri, Martino

    Frontiers in pediatrics

    2023  Volume 11, Page(s) 1101026

    Abstract: Mutations ... ...

    Abstract Mutations of
    Language English
    Publishing date 2023-03-30
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2023.1101026
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.

    Falsaperla, Raffaele / Sciuto, Laura / La Spina, Luisa / Sciuto, Sarah / Praticò, Andrea D / Ruggieri, Martino

    Metabolic brain disease

    2021  Volume 36, Issue 8, Page(s) 2195–2203

    Abstract: Neonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most common causes of NS include: intraventricular haemorrhage, hypoxic-ischemic ... ...

    Abstract Neonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most common causes of NS include: intraventricular haemorrhage, hypoxic-ischemic encephalopathy, hypoglycemia, electrolyte imbalance, neonatal stroke or central nervous system infection. Nevertheless, an Inborn Error of Metabolism (IEM) should be suspected in case of NS especially if these are resistant to common antiseizure drugs (ASDs) and with metabolic decompensation. Nowadays, Expanded Newborn Screening (ENS) has changed the natural history of some IEMs allowing a rapid diagnosis and a prompt onset of specific therapy; nevertheless, not all IEMs are detected by such screening (e.g. Molybdenum-Cofactor Deficiency, Hypophosphatasia, GLUT1-Deficiency Syndrome) and for this reason neonatologists have to screen for these diseases in the diagnostic work-up of NS. For IEMs, there are not specific semiology of seizures and EEG patterns. Herein, we report a systematic review on those IEMs that lead to NS and epilepsy in the neonatal period, studying only those IEMs not included in the ENS with tandem mass, suggesting clinical, biochemical features, and diagnostic work-up. Remarkably, we have observed a worse neurological outcome in infants undergoing only a treatment with common AED for their seizures, in comparison to those primarily treated with specific anti-convulsant treatment for the underlying metabolic disease (e.g.Ketogenic Diet, B6 vitamin). For this reason, we underline the importance of an early diagnosis in order to promptly intervene with a targeted treatment without waiting for drug resistance to arise.
    MeSH term(s) Epilepsy/diagnosis ; Humans ; Hypoxia-Ischemia, Brain/diagnosis ; Hypoxia-Ischemia, Brain/drug therapy ; Infant ; Infant, Newborn ; Metabolism, Inborn Errors/complications ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/drug therapy ; Neonatal Screening/adverse effects ; Seizures/diagnosis ; Seizures/drug therapy ; Seizures/etiology
    Language English
    Publishing date 2021-08-17
    Publishing country United States
    Document type Journal Article ; Review ; Systematic Review
    ZDB-ID 632824-6
    ISSN 1573-7365 ; 0885-7490
    ISSN (online) 1573-7365
    ISSN 0885-7490
    DOI 10.1007/s11011-021-00798-1
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    Zs.A 2155: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)

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  8. Article: Erratum: Monogenic Epilepsies: Channelopathies, Synaptopathies, mTorpathies, and Otheropathies

    Praticò, Andrea D. / Falsaperla, Raffaele / Polizzi, Agata / Ruggieri, Martino

    Journal of Pediatric Neurology

    (Pediatric Neuroradiology)

    2021  Volume 21, Issue 03, Page(s) e1–e1

    Series title Pediatric Neuroradiology
    Language English
    Publishing date 2021-05-14
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 1875-9041 ; 1304-2580
    ISSN (online) 1875-9041
    ISSN 1304-2580
    DOI 10.1055/s-0041-1730329
    Database Thieme publisher's database

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  9. Article ; Online: Immunotherapy for food allergies: a myth or a reality?

    Praticò, Andrea D / Leonardi, Salvatore

    Immunotherapy

    2015  Volume 7, Issue 2, Page(s) 147–161

    Abstract: Food allergy is a worldwide issue, with an estimated prevalence of 2-10%. An effective treatment is not available for people affected and the only management is the avoidance of the allergen. Oral immunotherapy and sublingual immunotherapy have been ... ...

    Abstract Food allergy is a worldwide issue, with an estimated prevalence of 2-10%. An effective treatment is not available for people affected and the only management is the avoidance of the allergen. Oral immunotherapy and sublingual immunotherapy have been tested by several authors, in particular for milk, egg and peanuts allergy, with significant results in term of desensitization induction. The achievement of tolerance is by the contrary doubtful, with different results obtained. In this review, we reviewed protocols of oral and sublingual immunotherapy for food allergy published in literature, mainly against milk, egg and peanut. At present, immunotherapy does not represent the gold standard in the treatment of food allergy, even if it can desensitize patients.
    MeSH term(s) Food Hypersensitivity/immunology ; Food Hypersensitivity/pathology ; Food Hypersensitivity/therapy ; Humans ; Sublingual Immunotherapy/methods
    Language English
    Publishing date 2015
    Publishing country England
    Document type Journal Article ; Review
    ISSN 1750-7448
    ISSN (online) 1750-7448
    DOI 10.2217/imt.14.115
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  10. Article ; Online: Mosaic Neurocutaneous Disorders and Their Causes.

    Ruggieri, Martino / Praticò, Andrea D

    Seminars in pediatric neurology

    2015  Volume 22, Issue 4, Page(s) 207–233

    Abstract: Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. ... ...

    Abstract Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. In some neurocutaneous syndromes the abnormal mosaic patterning involve mainly the skin and the nervous system configuring a (true) mosaic neurocutaneous disorder; or an ordinary trait of a neurocutaneous disorder is sometimes superimposed by a pronounced linear or otherwise segmental involvement; or, lastly, a neurocutaneous disorder can occur solely in a mosaic pattern. Recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (eg, RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are often responsible of the mosaic distribution of cutaneous and extra-cutaneous features. In this article we will focus on the well known, and less defined mosaic neurocutaneous phenotypes and their related molecular/genetic bases, including the mosaic neurofibromatoses and their related forms (ie, spinal neurofibromatosis and schwannomatosis); Legius syndrome; segmental arrangements in tuberous sclerosis; Sturge-Weber and Klippel-Trenaunay syndromes; microcephaly/megalencephaly-capillary malformation; blue rubber bleb nevus syndrome; Wyburn-Mason syndrome; mixed vascular nevus syndrome; PHACE syndrome; Incontinentia pigmenti; pigmentary mosaicism of the Ito type; neurocutaneous melanosis; cutis tricolor; speckled lentiginous syndrome; epidermal nevus syndromes; Becker's nevus syndrome; phacomatosis pigmentovascularis and pigmentokeratotica; Proteus syndrome; and encephalocraniocutaneous lipomatosis.
    MeSH term(s) Animals ; Humans ; Mosaicism ; Neurocutaneous Syndromes/etiology ; Neurocutaneous Syndromes/genetics ; Neurocutaneous Syndromes/metabolism ; Neurocutaneous Syndromes/pathology
    Language English
    Publishing date 2015-12
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1290000-x
    ISSN 1558-0776 ; 1071-9091
    ISSN (online) 1558-0776
    ISSN 1071-9091
    DOI 10.1016/j.spen.2015.11.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 4772: Show issues Location:
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