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  1. Article

    Open Access

    Medication use during pregnancy and the risk of gastroschisis: a systematic review and meta-analysis of observational studies

    The aetiology of gastroschisis is considered multifactorial. We conducted a systematic review and meta-analysis to assess whether the use of medications during pregnancy, is associated with the risk of gastros...

    Silvia Baldacci, Michele Santoro, Lorena Mezzasalma in Orphanet Journal of Rare Diseases (2024)

  2. Article

    Open Access

    Survival of children with rare structural congenital anomalies: a multi-registry cohort study

    Congenital anomalies are the leading cause of perinatal, neonatal and infant mortality in developed countries. Large long-term follow-up studies investigating survival beyond the first year of life in children...

    Alessio Coi, Michele Santoro, Anna Pierini in Orphanet Journal of Rare Diseases (2022)

  3. No Access

    Article

    Signal Detection in EUROmediCAT: Identification and Evaluation of Medication–Congenital Anomaly Associations and Use of VigiBase as a Complementary Source of Reference

    Knowledge on the safety of medication use during pregnancy is often sparse. Pregnant women are generally excluded from clinical trials, and there is a dependence on post-marketing surveillance to identify tera...

    Alana Cavadino, Lovisa Sandberg, Inger Öhman, Tomas Bergvall, Kristina Star in Drug Safety (2021)

  4. Article

    Open Access

    Survival of patients with rare diseases: a population-based study in Tuscany (Italy)

    Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health is...

    Francesca Gorini, Alessio Coi, Lorena Mezzasalma in Orphanet Journal of Rare Diseases (2021)

  5. Article

    Open Access

    Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy)

    Systemic Sclerosis (SSc) is a chronic autoimmune disease with a complex pathogenesis that includes vascular injury, abnormal immune activation, and tissue fibrosis. We provided a complete epidemiological chara...

    Alessio Coi, Simone Barsotti, Michele Santoro in Orphanet Journal of Rare Diseases (2021)

  6. Article

    Open Access

    Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

    The prevalence of chronic hypertension is increasing in pregnant women. Beta-blockers are among the most prevalent anti-hypertensive agents used in early pregnancy.

    Jorieke E. H. Bergman, L. Renée Lutke, Rijk O. B. Gans, Marie-Claude Addor in Drug Safety (2018)

  7. Article

    Open Access

    Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers: A EUROmediCAT Study

    Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have ...

    Linda de Jonge, Ester Garne, Rosa Gini, Susan E. Jordan, Kari Klungsoyr in Drug Safety (2015)

  8. Article

    Open Access

    Holt Oram syndrome: a registry-based study in Europe

    Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EU...

    Ingeborg Barisic, Ljubica Boban, Ruth Greenlees in Orphanet Journal of Rare Diseases (2014)