Graziella Mangone

Genetics Specialist

Name Graziella
Surname Mangone
Institution Institut du Cerveau et de la Moelle Epinière – Université Pierre et Marie Curie (Paris)
E-Mail graziella.mangone@aphp.fr
Address Centre d’Investigation Clinique Bâtiment ICM – 1ère étage – Aile A Hôpital Pitié-Salpêtrière 47 – 83 Boulevard de Hôpital 75013 Paris – France
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Graziella Mangone

Member PUBLICATIONS

  • Increase of natural killer cells in children with liver transplantation-acquired food allergy.

    Publication Date: 15/02/2018 on Allergologia et immunopathologia
    by Mori F, Angelucci C, Cianferoni A, Barni S, Indolfi G, Casini A, Mangone G, Materassi M, Pucci N, Azzari C, Novembre E
    DOI: 10.1016/j.aller.2017.09.030

    Transplantation-acquired food allergies (TAFA) are frequently reported and considered to be caused by immunosuppressive therapy. The aim of this study was to investigate the allergic and immunologic responses in children who had liver or kidney transplantations.

  • Lower limbs heterometry correction in patients with osteoporosis and increased risk of falls.

    Publication Date: 01/09/2017 on Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases
    by Pratelli E, Alito A, Zanella C, Busi L, Mangone G, Scarselli M, Pasquetti P
    DOI: 10.11138/ccmbm/2017.14.3.294

    Osteoporotic fractures are associated with a significant increase in morbidity, mortality and medical costs. There is also a strong link between fractures and increased mortality. Among effective measures for the prevention of falls, instability treatment surely plays a crucial role. Several factors contribute to instability, many of which are ageing-related: visual spatial deficit, strength reduction, weight imbalance with COP lateralization sometimes favoured by LLD (leg length discrepancy). It seems useful to detect an heterometry which could be corrected, if present. The aim of our work is to assess the responses of individuals with heterometry diagnosis to the wedge positioning, using the balance board Lizard 3.0®. In the period between January 2013 and September 2013, 52 patients were recruited with clinical heterometry >5 mm among those that were treated in the Recovery and Rehabilitation Agency's postural clinic of the Careggi Hospital Orthopedic Trauma Centre in Florence. Our measurements have revealed that there is a statistically significant correlation (p<0.5) between clinical limb shortening expressed in mm and location of the weight imbalance at the stabilometric examination at T0; our data shows that the majority of patients with clinical heterometry shows a weight imbalance on the longer limb. After heterometry correction, 21 patients showed a statistically significant reduction (p<0,01) in weight imbalance expressed in kg between T0 and T1 and have been assigned to group 1, the remaining 31 worsened and have been assigned to group 2. From the results of our study, it is clear that the correction of lower limbs heterometry shouldn't be based only on clinical measuring of the limbs length discrepancy, even if very accurate.

  • Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.

    Publication Date: 22/06/2017 on Movement disorders : official journal of the Movement Disorder Society
    by Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, Foroud T, Berg D, Brockmann K, Goldwurm S, Siri C, Asselta R, Ruiz-Martinez J, Mondragón E, Marras C, Ghate T, Giladi N, Mirelman A, Marder K,
    DOI: 10.1002/mds.27059

    Penetrance estimates of the leucine-rich repeat kinase 2 (LRRK2) p.G2019S mutation for PD vary widely (24%-100%). The p.G2019S penetrance in individuals of Ashkenazi Jewish ancestry has been estimated as 25%, adjusted for multiple covariates. It is unknown whether penetrance varies among different ethnic groups. The objective of this study was to estimate the penetrance of p.G2019S in individuals of non-Ashkenazi Jewish ancestry and compare penetrance between Ashkenazi Jews and non-Ashkenazi Jews to age 80.

  • The utility of the basophil activation test in the diagnosis of immediate amoxicillin or amoxicillin-clavulanate hypersensitivity in children and adults.

    Publication Date: 21/04/2017 on Italian journal of pediatrics
    by Barni S, Mori F, Valleriani C, Mangone G, Testi S, Saretta F, Sarti L, Pucci N, de Martino M, Azzari C, Novembre E
    DOI: 10.1186/s13052-017-0360-1

    The basophil activation test (BAT), has been proposed as a possible assay for the diagnosis of immediate-type allergy to beta-lactams (BLs). The aim of this study was to assess the utility of BAT in the diagnosis of amoxicillin (AMX) or AMX-clavulanate (AMX-C) IgE-mediated hypersensitivity in children and adults.

  • Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.

    Publication Date: 01/02/2017 on Neurobiology of aging
    by Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, Lesage S, Bras JM, Shulman JM, Sheerin UM, , Díez-Fairen M, Pastor P, Martí MJ, Ezquerra M, Tolosa E, Correia-Guedes L, Ferreira J, Amin N, van Duijn CM, van Rooij J, Uitterlinden AG, Kraaij R, Nalls M, Simón-Sánchez J
    DOI: 10.1016/j.neurobiolaging.2016.10.004

    Mutations in TMEM230 have recently been associated to Parkinson's disease (PD). To further understand the role of this gene in the Caucasian population, we interrogated our large repository of next generation sequencing data from unrelated PD cases and controls, as well as multiplex families with autosomal dominant PD. We identified 2 heterozygous missense variants in 2 unrelated PD cases and not in our control database (p.Y106H and p.I162V), and a heterozygous missense variant in 2 PD cases from the same family (p.A163T). However, data presented herein is not sufficient to support the role of any of these variants in PD pathology. A series of unified sequence kernel association tests also failed to show a cumulative effect of rare variation in this gene on the risk of PD in the general Caucasian population. Further evaluation of genetic data from different populations is needed to understand the genetic role of TMEM230 in PD etiology.

  • Hepatitis C viraemia after apparent spontaneous clearance in a vertically infected child.

    Publication Date: 07/05/2016 on Lancet (London, England)
    by Indolfi G, Mangone G, Bartolini E, Moriondo M, Azzari C, Resti M
    DOI: 10.1016/S0140-6736(16)00085-4
  • Assessment of neuroactive steroids in cerebrospinal fluid comparing acute relapse and stable disease in relapsing-remitting multiple sclerosis.

    Publication Date: 01/05/2016 on The Journal of steroid biochemistry and molecular biology
    by Orefice N, Carotenuto A, Mangone G, Bues B, Rehm R, Cerillo I, Saccà F, Calignano A, Orefice G
    DOI: 10.1016/j.jsbmb.2016.02.012

    Previous studies have reported an involvement of neuroactive steroids as neuroprotective and anti-inflammatory agents in neurological disorders such as multiple sclerosis (MS); an analysis of their profile during a specific clinical phase of MS is largely unknown. The pregnenolone (PREG), dehydroepiandrosterone (DHEA), and allopregnanolone (ALLO) profile was evaluated in cerebrospinal fluid (CSF) in relapsing-remitting multiple sclerosis (RR-MS) patients as well as those in patients affected by non-inflammatory neurological (control group I) and without neurological disorders (control group II). An increase of PREG and DHEA values was shown in CSF of male and female RR-MS patients compared to those observed in both control groups. The ALLO values were significantly lower in female RR-MS patients than those found in male RR-MS patients and in female without neurological disorder. During the clinical relapse, we observed female RR-MS patients showing significantly increased PREG values compared to female RR-MS patients in stable phase, while their ALLO values showed a significant decrease compared to male RR-MS patients of the same group. Male RR-MS patients with gadolinium-enhanced lesions showed PREG and DHEA values higher than those found in female RR-MS patients with gadolinium-enhanced lesions. Similary, male RR-MS patients with gadolinium-enhanced lesions showed PREG and DHEA values higher than male without gadolinium-enhanced lesions. Female RR-MS patients with gadolinium-enhanced lesions showed DHEA values higher than those found in female RR-MS patients with gadolinium-enhanced lesions. Male and female RR-MS patients with gadolinium-enhanced lesions showed ALLO values higher than those found in respective gender groups without gadolinium-enhanced lesions. ALLO values were lower in male than in female RR-MS patients without gadolinium-enhanced lesions. Considering the pharmacological properties of neuroactive steroids and the observation that neurological disorders influence their concentrations, these endogenous compounds may have an important role as prognostic factors of the disease and used as markers of MS activity such as relapses.

  • Pneumococcal serotype distribution in adults with invasive disease and in carrier children in Italy: Should we expect herd protection of adults through infants' vaccination?

    Publication Date: 01/01/2016 on Human vaccines & immunotherapeutics
    by Azzari C, Cortimiglia M, Nieddu F, Moriondo M, Indolfi G, Mattei R, Zuliani M, Adriani B, Degl'Innocenti R, Consales G, Aquilini D, Bini G, Di Natale ME, Canessa C, Ricci S, de Vitis E, Mangone G, Bechini A, Bonanni P, Pasinato A, Resti M
    DOI: 10.1080/21645515.2015.1102811

    The 7-valent pneumococcal conjugate vaccine (PCV7) produced a significant herd protection in unvaccinated adult population mostly because of pneumococcus carriage decrease in vaccinated children. It is not known if the 13-valent pneumococcal vaccine can give similar effect on adults. Aims of the work were to evaluate whether the 6 additional serotypes are present in nasopharynx of children and serotype distribution in invasive pneumococcal infections (IPD) in adults. Realtime-PCR was used to evaluate pneumococcal serotypes in adults with confirmed IPD and in nasopharyngeal swabs (NP) from 629 children not vaccinated or vaccinated with PCV7 and resident in the same geographical areas. Two hundred twenty-one patients (116 males, median 67.9 years) with IPD were studied (pneumonia n = 103, meningitis n = 61 sepsis n = 50, other n = 7). Two hundred twelve were serotyped. The most frequent serotypes were 3, (31/212; 14.6%), 19A, (19/212; 9.0%), 12 (17/212; 8.0%), 7F, (14/212; 6.6%). In NP of children, the frequency of those serotypes causing over 50% of IPD in adults was very low, ranging from 0.48% for serotype 7F to 7.9% for serotype 19A. On the other side serotype 5, very frequent in NP (18.7%) caused <1% IPD. In conclusion serotypes causing IPD in adults are very rarely found in children NP. We suggest that herd protection obtainable with the additional 6 serotypes included in PCV13 may be more limited than that demonstrated with PCV7 in the past. In order to reduce the burden of disease in adults, adults should be offered a specific vaccination program with highly immunogenic PCV.

  • Altered natural killer cells subsets distribution in children with hepatitis C following vertical transmission.

    Publication Date: 01/01/2016 on Alimentary pharmacology & therapeutics
    by Indolfi G, Mangone G, Moriondo M, Serranti D, Bartolini E, Azzari C, Resti M
    DOI: 10.1111/apt.13430

    Natural killer (NK) cells number, phenotypes and function have been evaluated in many studies in adults with hepatitis C as compared with healthy controls or dynamically during interferon-based and interferon-free treatments. Overall, in adults with chronic infection number of circulating NK cells has been reported to be lower when compared to spontaneous resolvers and healthy subjects. Different studies yielded inconsistent findings due to patient and virus heterogeneity.

  • The motor inhibition system in Parkinson's disease with levodopa-induced dyskinesias.

    Publication Date: 01/12/2015 on Movement disorders : official journal of the Movement Disorder Society
    by Cerasa A, Donzuso G, Morelli M, Mangone G, Salsone M, Passamonti L, Augimeri A, Arabia G, Quattrone A
    DOI: 10.1002/mds.26378

    Parkinson's disease is primarily a disorder of response initiation characterized by an excessive motor inhibition, whereas levodopa-induced dyskinesias are clearly a clinical expression of disinhibition of movements.