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  1. Article: Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (

    Fournier, Ninon / Fabre, Alexandre

    Intractable & rare diseases research

    2022  Volume 11, Issue 3, Page(s) 113–119

    Abstract: Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these dysfunctions has led to the description of several clinical phenotypes. We performed a ... ...

    Abstract Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these dysfunctions has led to the description of several clinical phenotypes. We performed a systematic review of all published cases involving seven genes with pathogenic variants,
    Language English
    Publishing date 2022-09-01
    Publishing country Japan
    Document type Journal Article ; Review
    ZDB-ID 2672570-8
    ISSN 2186-361X ; 2186-3644
    ISSN (online) 2186-361X
    ISSN 2186-3644
    DOI 10.5582/irdr.2022.01060
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Impact of Early Hemoglobin Levels on Neurodevelopment Outcomes of Two-Year-Olds in Very Preterm Children.

    Gire, Catherine / Fournier, Ninon / Pirrello, Johanna / Marret, Stéphane / Patural, Hugues / Flamant, Cyril / Pierrat, Véronique / Kaminski, Monique / Ancel, Pierre-Yves / Tosello, Barthélémy / Berbis, Julie

    Children (Basel, Switzerland)

    2023  Volume 10, Issue 2

    Abstract: Objective: To evaluate, in very preterm infants, the hemoglobin (Hb) levels during the first 24 h and the neurodevelopment outcomes at 24 months of corrected age.: Design, setting, and patients: We conducted a secondary analysis of the French ... ...

    Abstract Objective: To evaluate, in very preterm infants, the hemoglobin (Hb) levels during the first 24 h and the neurodevelopment outcomes at 24 months of corrected age.
    Design, setting, and patients: We conducted a secondary analysis of the French national prospective and population-based cohort EPIPAGE-2. The eligible study participants were live-born singletons who were born before 32 weeks of gestational age, with early Hb levels who were admitted to the neonatal intensive care unit.
    Main outcome measures: The early Hb levels for an outcome survival at 24 months of corrected age without neurodevelopmental impairment were measured. The secondary outcomes were survival at discharge and without severe neonatal morbidity.
    Results: Of the 2158 singletons of <32 weeks with mean early Hb levels of 15.4 (±2.4) g/dL, 1490 of the infants (69%) had a follow-up at two years of age. An early Hb of 15.2 g/dL is the minimum receiving operating characteristic curve at the 24 months risk-free level, but the area under the curve at 0.54 (close to 50%) indicates that this rate was not informative. In logistic regression, no association was found between early Hb levels and outcomes at two years of age (aOR 0.966; 95% CI [0.775-1.204];
    Conclusions: Early low Hb levels are associated with major neonatal morbidities in VP singletons, but not with neurodevelopment outcomes at two years of age, except in male infants of >26 Weeks GA.
    Language English
    Publishing date 2023-01-25
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2732685-8
    ISSN 2227-9067
    ISSN 2227-9067
    DOI 10.3390/children10020209
    Database MEDical Literature Analysis and Retrieval System OnLINE

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