6 Works

Assessment of appropriateness of hospitalizations in Ukraine: analytical framework, method, and findings

Olena Doroshenko, Feng Zhao, Valery N. Lekhan, Lilia V. Kriachkova & Alona Goroshko
Objectives: This article reviews the applicability of a customized version of the Appropriateness Evaluation Protocol (AEP) to evaluate the magnitude of inappropriate hospitalizations in two regions of Ukraine. Data and methods: The original AEP was modified to develop a customized tool, which included criteria for the appropriateness of hospitalization and duration of inpatient stay. The customization of the tool followed the Delphi procedure. We randomly selected 381 medical records to test the feasibility and reliability...

Data from: Infant feeding and risk of developing celiac disease: a systematic review

Marco Silano, Carlo Agostoni, Yolanda Sanz & Stefano Guandalini
Objective: To review the evidence for the association of breast feeding, breastfeeding duration or the timing of gluten introduction and the later development of celiac disease (CD). Design: Systematic review. Methods: We searched MEDLINE, via PubMed, EMBASE and Web of Science, for studies published up to 31 August 2015 investigating the association of breastfeeding duration, breast feeding at the moment of gluten introduction or the timing of gluten introduction and the later development of CD....

Data from: Plasmodium vivax diversity and population structure across four continents

Cristian Koepfli, Priscila T. Rodrigues, Tiago Antao, Pamela Orjuela-Sánchez, Peter Van Den Eede, Dionicia Gamboa, Nguyen Van Hong, Jorge Bendezu, Annette Erhart, Céline Barnadas, Arsène Ratsimbasoa, Didier Menard, Carlo Severini, Michela Menegon, Baki Y. M. Nour, Nadira Karunaweera, Ivo Mueller, Marcelo U. Ferreira, Ingrid Felger & Bakri Y. M. Nour
Plasmodium vivax is the geographically most widespread human malaria parasite. To analyze patterns of microsatellite diversity and population structure across countries of different transmission intensity, genotyping data from 11 microsatellite markers was either generated or compiled from 841 isolates from four continents collected in 1999–2008. Diversity was highest in South-East Asia (mean allelic richness 10.0–12.8), intermediate in the South Pacific (8.1–9.9) Madagascar and Sudan (7.9–8.4), and lowest in South America and Central Asia (5.5–7.2). A...

Data from: Age and sex prevalence estimate of Joubert Syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, Roberta Battini, Enrico Bertini, Renato Borgatti, Antonella Casella, Alessia Micalizzi, Marta Nardella, Romina Romaniello, Valentina Serpieri, Ginevra Zanni, Enza Maria Valente & Nicola Vanacore
Objective: To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology, and to provide a molecular characterization of the described patients cohort. Methods: We enrolled all patients with a neuroradiologically confirmed diagnosis of JS and resident in Italy in 2018, and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis, and performed Next-Generation Sequencing (NGS) analysis on...

Data from: Chromosome inversions and ecological plasticity in the main African malaria mosquitoes

Diego Ayala, Pelayo Acevedo, Marco Pombi, Ibrahima Dia, Daniela Boccolini, Carlo Costantini, Frederic Simard & Didier Fontenille
Chromosome inversions have fascinated the scientific community, mainly because of their role in the rapid adaption of different taxa to changing environments. However, the ecological traits linked to chromosome inversions have been poorly studied. Here, we investigated the roles played by 23 chromosome inversions in the adaptation of the four major African malaria mosquitoes to local environments in Africa. We studied their distribution patterns by using spatially explicit modeling and characterized the ecogeographical determinants of...

Data from: Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

Valentina Muto, Elisabetta Flex, Zachary Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria M. Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R. Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda … & Marco Tartaglia
Objective: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families. Methods: We used whole-exome sequencing (WES) (families 1 and 2) and a combined approach based on homozygosity mapping and WES (family 3). We performed in vitro studies to explore the effect of the nontruncating SQSTM1 mutation on protein function and the...

Registration Year

  • 2019
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  • 2018
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  • 2015
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Resource Types

  • Dataset
    6

Affiliations

  • Istituto Superiore di Sanità
    6
  • Bambino Gesù Children's Hospital
    2
  • Institut Pasteur du Cambodge
    2
  • University of Gezira
    1
  • Maladies Infectieuses et Vecteurs : Ecologie, Génétique, Evolution et Contrôle
    1
  • Agostino Gemelli University Polyclinic
    1
  • University of Pavia
    1
  • University of Milan
    1
  • Institute for Game and Wildlife Research
    1
  • Instituto de Agroquímica y Tecnología de Alimentos
    1