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  1. Article ; Online: Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.

    Couzens, Alexander / Lebreton, Aurélien / Masclaux, Frédéric / Guipponi, Michel / Pebrel-Richard, Céline / Laffargue, Fanny / Gembara, Piotr / Casini, Alessandro / Neerman-Arbez, Marguerite

    Haemophilia : the official journal of the World Federation of Hemophilia

    2022  Volume 28, Issue 5, Page(s) e132–e135

    MeSH term(s) Afibrinogenemia/genetics ; Fibrinogen/genetics ; Fibrinogens, Abnormal/genetics ; Heterozygote ; Humans ; Multigene Family
    Chemical Substances Fibrinogens, Abnormal ; Fibrinogen (9001-32-5)
    Language English
    Publishing date 2022-07-09
    Publishing country England
    Document type Letter
    ZDB-ID 1229713-6
    ISSN 1365-2516 ; 1351-8216 ; 1355-0691
    ISSN (online) 1365-2516
    ISSN 1351-8216 ; 1355-0691
    DOI 10.1111/hae.14621
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Association of Nonpharmaceutical Interventions During the COVID-19 Pandemic With Invasive Pneumococcal Disease, Pneumococcal Carriage, and Respiratory Viral Infections Among Children in France.

    Rybak, Alexis / Levy, Corinne / Angoulvant, François / Auvrignon, Anne / Gembara, Piotr / Danis, Kostas / Vaux, Sophie / Levy-Bruhl, Daniel / van der Werf, Sylvie / Béchet, Stéphane / Bonacorsi, Stéphane / Assad, Zein / Lazzati, Andréa / Michel, Morgane / Kaguelidou, Florentia / Faye, Albert / Cohen, Robert / Varon, Emmanuelle / Ouldali, Naïm

    JAMA network open

    2022  Volume 5, Issue 6, Page(s) e2218959

    Abstract: Importance: An association between pneumococcal nasopharyngeal carriage and invasive pneumococcal disease (IPD) has been previously established. However, it is unclear whether the decrease in IPD incidence observed after implementation of ... ...

    Abstract Importance: An association between pneumococcal nasopharyngeal carriage and invasive pneumococcal disease (IPD) has been previously established. However, it is unclear whether the decrease in IPD incidence observed after implementation of nonpharmaceutical interventions (NPIs) during the COVID-19 pandemic was associated with concomitant changes in pneumococcal carriage and respiratory viral infections.
    Objective: To assess changes in IPD incidence after the implementation of NPIs during the COVID-19 pandemic and examine their temporal association with changes in pneumococcal carriage rate and respiratory viral infections (specifically respiratory syncytial virus [RSV] and influenza cases) among children in France.
    Design, setting, and participants: This cohort study used interrupted time series analysis of data from ambulatory and hospital-based national continuous surveillance systems of pneumococcal carriage, RSV and influenza-related diseases, and IPD between January 1, 2007, and March 31, 2021. Participants included 11 944 children younger than 15 years in France.
    Exposures: Implementation of NPIs during the COVID-19 pandemic.
    Main outcomes and measures: The estimated fraction of IPD change after implementation of NPIs and the association of this change with concomitant changes in pneumococcal carriage rate and RSV and influenza cases among children younger than 15 years. The estimated fraction of change was analyzed using a quasi-Poisson regression model.
    Results: During the study period, 5113 children (median [IQR] age, 1.0 [0.6-4.0] years; 2959 boys [57.9%]) had IPD, and 6831 healthy children (median [IQR] age, 1.5 [0.9-3.9] years; 3534 boys [51.7%]) received a swab test. Data on race and ethnicity were not collected. After NPI implementation, IPD incidence decreased by 63% (95% CI, -82% to -43%; P < .001) and was similar for non-13-valent pneumococcal conjugate vaccine serotypes with both high disease potential (-63%; 95% CI, -77% to -48%; P < .001) and low disease potential (-53%; 95% CI, -70% to -35%; P < .001). The overall pneumococcal carriage rate did not significantly change after NPI implementation (-12%; 95% CI, -37% to 12%; P = .32), nor did the carriage rate for non-PCV13 serotypes with high disease potential (-26%; 95% CI, -100% to 52%; P = .50) or low disease potential (-7%; 95% CI, -34% to 20%; P = .61). After NPI implementation, the estimated number of influenza cases decreased by 91% (95% CI, -74% to -97%; P < .001), and the estimated number of RSV cases decreased by 74% (95% CI, -55% to -85%; P < .001). Overall, the decrease in influenza and RSV cases accounted for 53% (95% CI, -28% to -78%; P < .001) and 40% (95% CI, -15% to -65%; P = .002) of the decrease in IPD incidence during the NPI period, respectively. The decrease in IPD incidence was not associated with pneumococcal carriage, with carriage accounting for only 4% (95% CI, -7% to 15%; P = .49) of the decrease.
    Conclusions and relevance: In this cohort study of data from multiple national continuous surveillance systems, a decrease in pediatric IPD incidence occurred after the implementation of NPIs in France; this decrease was associated with a decrease in viral infection cases rather than pneumococcal carriage rate. The association between pneumococcal carriage and IPD was potentially modified by changes in the number of RSV and influenza cases, suggesting that interventions targeting respiratory viruses, such as immunoprophylaxis or vaccines for RSV and influenza, may be able to prevent a large proportion of pediatric IPD cases.
    MeSH term(s) COVID-19/epidemiology ; Child ; Cohort Studies ; Humans ; Infant ; Influenza Vaccines ; Influenza, Human/epidemiology ; Influenza, Human/prevention & control ; Male ; Pandemics ; Pneumococcal Infections/epidemiology ; Pneumococcal Infections/prevention & control ; Streptococcus pneumoniae ; Viruses
    Chemical Substances Influenza Vaccines
    Language English
    Publishing date 2022-06-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2574-3805
    ISSN (online) 2574-3805
    DOI 10.1001/jamanetworkopen.2022.18959
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Young children formula consumption and iron deficiency at 24 months in the general population: A national-level study.

    Sacri, Anne-Sylvia / Bocquet, Alain / de Montalembert, Mariane / Hercberg, Serge / Gouya, Laurent / Blondel, Béatrice / Ganon, Amandine / Hebel, Pascale / Vincelet, Catherine / Thollot, Franck / Rallo, Massimiliano / Gembara, Piotr / Levy, Corinne / Chalumeau, Martin

    Clinical nutrition (Edinburgh, Scotland)

    2020  Volume 40, Issue 1, Page(s) 166–173

    Abstract: Background & aims: Iron deficiency (ID) is considered the most frequent micronutrient deficiency in industrialized countries where strategies for its primary prevention vary widely and are insufficiently evaluated. We aimed to study the effectiveness ... ...

    Abstract Background & aims: Iron deficiency (ID) is considered the most frequent micronutrient deficiency in industrialized countries where strategies for its primary prevention vary widely and are insufficiently evaluated. We aimed to study the effectiveness for iron status of a national iron deficiency prevention strategy based on recommendations for young-child formula (YCF) use after age 12 months, taking into consideration other sources of iron and the family's socio-economic status.
    Methods: In a cross-sectional observational study conducted in primary care pediatrician offices throughout France from 2016 to 2017, infants aged 24 months were consecutively included for a food survey and blood sampling. Associations between YCF consumption and serum ferritin (SF) level were studied by multivariable regression after adjustment on sociodemographic, perinatal and dietary characteristics, notably other intakes of iron.
    Results: Among the 561 infants analyzed, the ID prevalence was 6.6% (37/561; 95% confidence interval [CI] 4.7-9.0). Daily iron intake excluding YCF and total daily iron intake including YCF were below the 5-mg/day recommended average requirements for 63% and 18% of children, respectively. ID frequency was significantly decreased (or SF level was independently higher) with any YCF consumption after age 10 months (odds ratio 0.15, 95% CI 0.07-0.31), current YCF consumption at age 24 months (median SF level 29 vs 21 μg/L if none), prolonged YCF consumption (28 μg/L if >12 months vs 17 μg/L if none), and increasing daily volume of YCF consumed at age 24 months from a small volume (e.g., 29 μg/L if <100 mL/day vs 21 μg/L if none).
    Conclusions: Current or past YCF use was independently associated with a better iron status at age 24 months than non-use. The strategy recommending YCF use at weaning after age 12 months seems effective in the general population. CLINICALTRIALS.
    Gov identifier: NCT02484274.
    MeSH term(s) Child, Preschool ; Cross-Sectional Studies ; Diet/adverse effects ; Diet/statistics & numerical data ; Diet Surveys ; Eating/physiology ; Female ; Ferritins/blood ; France/epidemiology ; Humans ; Infant ; Infant Formula/statistics & numerical data ; Infant Nutritional Physiological Phenomena/physiology ; Iron/deficiency ; Male ; Nutritional Status ; Odds Ratio ; Prevalence ; Regression Analysis ; Social Class
    Chemical Substances Ferritins (9007-73-2) ; Iron (E1UOL152H7)
    Language English
    Publishing date 2020-05-07
    Publishing country England
    Document type Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 604812-2
    ISSN 1532-1983 ; 0261-5614
    ISSN (online) 1532-1983
    ISSN 0261-5614
    DOI 10.1016/j.clnu.2020.04.041
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Measurements of eftrenonacog alfa by 19 different combinations reagents/instrument: A single-centre study.

    Sinegre, Thomas / Trayaud, Adeline / Tardieu, Maryse / Fourneyron, Virginie / Talon, Laurie / Berger, Marc G / Tillier, Maxence / Senectaire, Stéphanie / Gembara, Piotr / Barbin, Anne-Lise / Vaissade, Aurélie / Lebreton, Aurélien

    Haemophilia : the official journal of the World Federation of Hemophilia

    2020  Volume 26, Issue 3, Page(s) 543–552

    Abstract: Introduction: Recombinant factor IX Fc fusion protein (rFIXFc) is an extended half-life concentrate for the treatment of haemophilia B (HB). rFIXFc activity monitoring is crucial in several clinical situations. However, differences were observed between ...

    Abstract Introduction: Recombinant factor IX Fc fusion protein (rFIXFc) is an extended half-life concentrate for the treatment of haemophilia B (HB). rFIXFc activity monitoring is crucial in several clinical situations. However, differences were observed between one-stage clotting (OSC) and chromogenic assays, but not for all factor IX (FIX) concentrations.
    Aims: To compare rFIXFc measurements obtained using different instruments and common OSC and chromogenic asssays.
    Methods: FIX:C measurements were performed in rFIXFc-spiked plasma aliquots (targeted FIX levels of 1.5, 1, 0.5, 0.2, 0.05, 0.02 and 0.01 IU/mL) and plasma samples collected from two patients with HB at various time points after rFIXFc infusion, using three instruments (STA-R MAX, ACLTOP700 and CS2100i) and common clotting and chromogenic FIX:C assays.
    Results: The same reagent could give different FIX:C measurements when adapted to different instruments. Moreover, the same reagent/instrument combination could give different results depending of the FIX concentration. For OSC assays, only STA-Cephascreen on STA-R MAX and CS2100i, SynthAFax on ACLTOP 700 and Actin on CS2100i provided acceptable recoveries for all rFIXFc concentrations. The chromogenic assays ROX-FIX and Biophen FIX:C underestimated rFIXFc for concentrations lower than 0.05 and 0.2 IU/mL, respectively.
    Conclusions: Our study demonstrates that the same reagent adapted to different instruments could lead to different rFIXFc values. As rFIXFc under/overestimation could be associated with inappropriate treatment or biased calculation of pharmacokinetic parameters, the reagent/instrument combination used by haemostasis laboratories should be considered and regularly evaluated by external quality assessment programmes.
    MeSH term(s) Adolescent ; Factor IX/pharmacology ; Female ; Humans ; Immunoglobulin Fc Fragments/pharmacology ; Indicators and Reagents/pharmacology ; Male ; Recombinant Fusion Proteins/pharmacology
    Chemical Substances Immunoglobulin Fc Fragments ; Indicators and Reagents ; Recombinant Fusion Proteins ; factor IX Fc fusion protein ; Factor IX (9001-28-9)
    Language English
    Publishing date 2020-04-20
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 1229713-6
    ISSN 1365-2516 ; 1351-8216 ; 1355-0691
    ISSN (online) 1365-2516
    ISSN 1351-8216 ; 1355-0691
    DOI 10.1111/hae.14003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Cancer incidence among children in France, 1990-1999.

    Desandes, Emmanuel / Clavel, Jacqueline / Berger, Claire / Bernard, Jean-Louis / Blouin, Pascale / de Lumley, Lionel / Demeocq, François / Freycon, Fernand / Gembara, Piotr / Goubin, Aurélie / Le Gall, Edouard / Pillon, Pascale / Sommelet, Danièle / Tron, Isabelle / Lacour, Brigitte

    Pediatric blood & cancer

    2004  Volume 43, Issue 7, Page(s) 749–757

    Abstract: Background: Cancer is the second most important cause of death for children aged less than 15 years in France, unintentional injuries being the leading cause. The aim of the present study was to estimate the incidence of childhood cancer from six ... ...

    Abstract Background: Cancer is the second most important cause of death for children aged less than 15 years in France, unintentional injuries being the leading cause. The aim of the present study was to estimate the incidence of childhood cancer from six Childhood Cancer Registries covering 32% of France.
    Procedure: Incident cancer cases diagnosed between 1990 and 1999 in children (0-14 years) resident in the administrative areas covered by each Registry were included. Annual age-standardized rates (ASRs) were adjusted by the world population. The estimated annual percent change (EAPC) was used to measure trend towards changes in the annual age-standardized incidence rate.
    Results: With 4234 registered cases, the ASRs per million children were 137.5 for all cancers combined, 42.3 for leukemia, 29.1 for central-nervous-system tumors, 15.6 for lymphomas, 14.1 for sympathetic-nervous-system tumors, and 9.1 for renal tumors. The ASR of all cancers combined was slightly higher in males (145.8 per million children) than in females (128.7 per million children) with an M/F ratio of 1.2. No significant incidence trend was observed, with an EAPC of +0.2% [IC 95% (-2.5; +3.0); P = 0.89].
    Conclusions: The estimated incidence rates are similar to those reported in previous studies in European and North American countries. These results will contribute to the development of National Registration of Childhood Cancer in France and support the national research program on childhood cancer.
    MeSH term(s) Adolescent ; Adult ; Age Factors ; Child ; Child, Preschool ; Female ; France/epidemiology ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Neoplasms/classification ; Neoplasms/epidemiology ; Registries ; Sex Factors ; Time
    Language English
    Publishing date 2004-12
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.20148
    Database MEDical Literature Analysis and Retrieval System OnLINE

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