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  1. Article ; Online: Issues with pregnancy in systemic lupus.

    Le Guern, Véronique / Guettrot-Imbert, Gaelle / Dupré, Anastasia / Perol, Sandrine / Pannier, Emmanuelle / Morel, Nathalie / Costedoat-Chalumeau, Nathalie

    Joint bone spine

    2024  Volume 91, Issue 6, Page(s) 105713

    Abstract: Systemic lupus erythematosus is a disease that affects a large number of young women of childbearing age. Today, pregnancy is considered safe in almost all women with lupus, especially when the disease is under control. However, pregnancies in this ... ...

    Abstract Systemic lupus erythematosus is a disease that affects a large number of young women of childbearing age. Today, pregnancy is considered safe in almost all women with lupus, especially when the disease is under control. However, pregnancies in this population have a higher risk of maternal complications than in the general population. It is therefore important to plan pregnancies as effectively as possible, using effective contraception and pre-pregnancy counselling. In fact, effective, well-tolerated contraception is essential for patients for whom pregnancy cannot be safely envisaged, particularly in the setting of teratogenic treatment or significant disease activity. Preconception counselling is essential and helps to anticipate several aspects of a future pregnancy. Several recent prospective studies have clearly identified risk factors for obstetric complications and disease flare. High level of lupus activity, low complement, primigravida and a history of lupus nephritis are predictive factors of disease flare when antiphospholipid syndrome or antiphospholipid antibodies (specifically for lupus anticoagulant), damage, activity of lupus are predictive for obstetric events. Appropriate therapeutic management is essential, based primarily on the continuation of hydroxychloroquine, although some recent warnings about its use in pregnancy have been discussed controversially. Corticosteroid therapy can be continued at the lowest possible dose, as can certain immunosuppressive drugs. In the case of a history of lupus nephritis, low-dose aspirin is also prescribed. Although still exceptional, the risk of neonatal lupus is also higher, in patients with anti-SSA and anti-SSB antibodies. The aim of this review is to summarise the risk factors for adverse obstetric outcomes and to improve medical and obstetric management in this population of pregnant women with lupus.
    Language English
    Publishing date 2024-03-04
    Publishing country France
    Document type Journal Article
    ZDB-ID 2020487-5
    ISSN 1778-7254 ; 1297-319X
    ISSN (online) 1778-7254
    ISSN 1297-319X
    DOI 10.1016/j.jbspin.2024.105713
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  2. Article ; Online: Hypertension artérielle et contraception.

    Perol, Sandrine / Hugon-Rodin, Justine / Plu-Bureau, Geneviève

    Presse medicale (Paris, France : 1983)

    2019  Volume 48, Issue 11 Pt 1, Page(s) 1269–1283

    Abstract: Hypertension is a major risk factor for cardiovascular diseases. Because of the high frequency of hormonal contraceptives use, assessing their side effects is an important public health issue. In this perspective, we conducted a review of the risk of ... ...

    Title translation Hypertension and contraception.
    Abstract Hypertension is a major risk factor for cardiovascular diseases. Because of the high frequency of hormonal contraceptives use, assessing their side effects is an important public health issue. In this perspective, we conducted a review of the risk of hypertension associated with the use of hormonal contraceptives, either combined estrogen-progestin or only progestin. The use of combined hormonal contraceptives, regardless of its type and route of administration, is associated with a slight increase in blood pressure, both systolic and diastolic blood pressures. The frequency of onset of hypertension in women who use combined hormonal contraception is between 0.6% and 8.5%. Progestin-only contraception seems safe with respect to the risk of hypertension. It is therefore important to remember that the use of combined hormonal contraception is contra-indicated in hypertensive women, even well controlled. Finally, we propose a prescription assistance algorithm according to the recommendations of an expert panel. It should be remembered that taking blood pressure at each contraceptive consultation (initial and follow-up) is essential.
    MeSH term(s) Adolescent ; Adult ; Blood Pressure/drug effects ; Blood Pressure Determination ; Contraception/adverse effects ; Contraceptives, Oral, Combined/adverse effects ; Contraceptives, Oral, Hormonal/adverse effects ; Female ; Humans ; Hypertension/chemically induced ; Middle Aged ; Progestins/administration & dosage ; Progestins/adverse effects ; Risk Factors ; Young Adult
    Chemical Substances Contraceptives, Oral, Combined ; Contraceptives, Oral, Hormonal ; Progestins
    Language French
    Publishing date 2019-11-19
    Publishing country France
    Document type Journal Article ; Systematic Review
    ZDB-ID 120943-7
    ISSN 2213-0276 ; 0032-7867 ; 0755-4982 ; 0301-1518
    ISSN (online) 2213-0276
    ISSN 0032-7867 ; 0755-4982 ; 0301-1518
    DOI 10.1016/j.lpm.2019.07.033
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  3. Article ; Online: Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.

    Jordan, Pénélope / Verebi, Camille / Hervé, Bérénice / Perol, Sandrine / Chakhtoura, Zeina / Courtillot, Carine / Bachelot, Anne / Karila, Daphné / Renard, Céline / Grouthier, Virginie / de la Croix, Stanislas Mulot / Bernard, Valérie / Fouveaut, Corinne / de la Perrière, Aude Brac / Jonard-Catteau, Sophie / Touraine, Philippe / Plu-Bureau, Geneviève / Dupont, Jean Michel / Christin-Maitre, Sophie /
    Bienvenu, Thierry

    Clinical genetics

    2024  

    Abstract: Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular ... ...

    Abstract Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular signs and primary ovarian failure (POI), and (ii) type II (BPES-II) with no systemic associations. This study aimed to compare the distribution of FOXL2 variants in idiopathic POI/DOR (diminished ovarian reserve) and both types of BPES, and to determine the involvement of FOXL2 in non-syndromic forms of POI/DOR. We studied the whole coding region of the FOXL2 gene using next-generation sequencing in 1282 patients with non-syndromic POI/DOR. Each identified FOXL2 variant was compared to its frequency in the general population, considering ethnicity. Screening of the entire coding region of the FOXL2 gene allowed us to identify 10 different variants, including nine missense variants. Of the patients with POI/DOR, 14 (1%) carried a FOXL2 variant. Significantly, six out of nine missense variants (67%) were overrepresented in our POI/DOR cohort compared to the general or specific ethnic subgroups. Our findings strongly suggest that five rare missense variants, mainly located in the C-terminal region of FOXL2 are high-risk factors for non-syndromic POI/DOR, though FOXL2 gene implication accounts for approximately 0.54% of non-syndromic POI/DOR cases. These results support the implementation of routine genetic screening for patients with POI/DOR in clinical settings.
    Language English
    Publishing date 2024-04-01
    Publishing country Denmark
    Document type Journal Article
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14526
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  4. Article ; Online: Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

    Quilichini, Juliette / Perol, Sandrine / Cuisset, Laurence / Grotto, Sarah / Fouveaut, Corinne / Barbot, Jean Claude / Verebi, Camille / Jordan, Pénélope / Héron, Delphine / Molina-Gomes, Denise / Pipiras, Eva / Grynberg, Michael / Catteau-Jonard, Sophie / Touraine, Philippe / Christin-Maître, Sophie / Plu-Bureau, Geneviève / El Khattabi, Laila / Bienvenu, Thierry

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 4, Page(s) e63479

    Abstract: FMR1 premutation female carriers are at risk of developing premature/primary ovarian insufficiency (POI) with an incomplete penetrance. In this study, we determined the CGG repeat size among 1095 women with diminished ovarian reserve (DOR) / POI and ... ...

    Abstract FMR1 premutation female carriers are at risk of developing premature/primary ovarian insufficiency (POI) with an incomplete penetrance. In this study, we determined the CGG repeat size among 1095 women with diminished ovarian reserve (DOR) / POI and characterized the CGG/AGG substructure in 44 women carrying an abnormal FMR1 repeat expansion number, compared to a group of 25 pregnant women carrying an abnormal FMR1 CGG repeat size. Allelic complexity scores of the FMR1 gene were calculated and compared between the two groups. In the DOR/POI cohort, 2.1% of women presented with an intermediate repeat size and 1.9% with a premutation. Our results suggest that the risk of POI is highest in the mid-range of CGG repeats. We observed that the allelic score is significantly higher in POI women compared to the pregnant women group (p-value = 0.02). We suggest that a high allelic score due to more than 2 AGG interspersions in the context of an intermediate number of repetitions could favor POI. Larger studies are still needed to evaluate the relevance of this new tool for the determination of the individual risk of developing POI in women with abnormal number of CGG repeats.
    MeSH term(s) Pregnancy ; Female ; Humans ; Alleles ; Primary Ovarian Insufficiency/genetics ; Fragile X Mental Retardation Protein/genetics ; Biological Variation, Population ; Fragile X Syndrome/genetics ; Trinucleotide Repeat Expansion/genetics
    Chemical Substances Fragile X Mental Retardation Protein (139135-51-6) ; FMR1 protein, human
    Language English
    Publishing date 2023-11-21
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63479
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  5. Article ; Online: NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.

    Jordan, Pénélope / Verebi, Camille / Perol, Sandrine / Grotto, Sarah / Fouveaut, Corinne / Christin-Maitre, Sophie / de la Perrière, Aude Brac / Grouthier, Virginie / Jonard-Catteau, Sophie / Touraine, Philippe / Plu-Bureau, Geneviève / Dupont, Jean Michel / El Khattabi, Laila / Bienvenu, Thierry

    Journal of assisted reproduction and genetics

    2023  Volume 41, Issue 1, Page(s) 135–146

    Abstract: Purpose: Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. The NOBOX gene was considered one of the major genetic causes of POI. However, the ... ...

    Abstract Purpose: Premature ovarian insufficiency (POI) affects approximately 1% of women before the age of 40. Genetic contribution is a significant component of POI. The NOBOX gene was considered one of the major genetic causes of POI. However, the pathogenicity and the penetrance of NOBOX variants remain unclear.
    Methods: We studied the whole coding region of the NOBOX gene by next generation sequencing in a cohort of 810 patients with POI, and we compared the frequency of each identified NOBOX variant to the general population taking into account the ethnicity of each individual.
    Results: Screening of the whole coding region of the NOBOX gene allowed us to identify 35 different variants, including 5 loss-of-function variants. In total, 171 patients with POI (25%) carried out at least one NOBOX variant. Regarding missense variants, we observed a significant overrepresentation of the most frequent ones in our 810 POI patients as compared to the general, except for p.(Arg117Trp). However, taking into account the ethnic origin of the individuals, we observed no significant OR difference for p.(Arg44Leu) and p.(Arg117Trp) in African subgroup and for p.(Asp452Asn) in European subgroup.
    Conclusion: This population study suggests that the p.(Arg44Leu) variant could be considered benign variant and that the p.(Asp452Asn) and p.(Arg117Trp) variants could be considered moderate risk pathogenic variants with probably partial and very low penetrance and/or expressivity. In contrast, p.(Gly91Trp) and p.(Gly152Arg) variants could be considered pathogenic variants with a moderate functional impact.
    MeSH term(s) Female ; Humans ; Ethnicity ; Mutation, Missense/genetics ; Primary Ovarian Insufficiency/genetics ; Primary Ovarian Insufficiency/epidemiology
    Chemical Substances NOBOX protein, human
    Language English
    Publishing date 2023-11-03
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1112577-9
    ISSN 1573-7330 ; 1058-0468
    ISSN (online) 1573-7330
    ISSN 1058-0468
    DOI 10.1007/s10815-023-02981-y
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  6. Article ; Online: Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

    Heddar, Abdelkader / Ogur, Cagri / Da Costa, Sabrina / Braham, Inès / Billaud-Rist, Line / Findikli, Necati / Beneteau, Claire / Reynaud, Rachel / Mahmoud, Khaled / Legrand, Stéphanie / Marchand, Maud / Cedrin-Durnerin, Isabelle / Cantalloube, Adèle / Peigne, Maeliss / Bretault, Marion / Dagher-Hayeck, Benedicte / Perol, Sandrine / Droumaguet, Celine / Cavkaytar, Sabri /
    Nicolas-Bonne, Carole / Elloumi, Hanen / Khrouf, Mohamed / Rougier-LeMasle, Charlotte / Fradin, Melanie / Le Boette, Elsa / Luigi, Perrine / Guerrot, Anne-Marie / Ginglinger, Emmanuelle / Zampa, Amandine / Fauconnier, Anais / Auger, Nathalie / Paris, Françoise / Brischoux-Boucher, Elise / Cabrol, Christelle / Brun, Aurore / Guyon, Laura / Berard, Melanie / Riviere, Axelle / Gruchy, Nicolas / Odent, Sylvie / Gilbert-Dussardier, Brigitte / Isidor, Bertrand / Piard, Juliette / Lambert, Laetitia / Hamamah, Samir / Guedj, Anne Marie / Brac de la Perriere, Aude / Fernandez, Hervé / Raffin-Sanson, Marie-Laure / Polak, Michel / Letur, Hélène / Epelboin, Sylvie / Plu-Bureau, Genevieve / Wołczyński, Sławomir / Hieronimus, Sylvie / Aittomaki, Kristiina / Catteau-Jonard, Sophie / Misrahi, Micheline

    EBioMedicine

    2022  Volume 84, Page(s) 104246

    Abstract: Background: Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We ... ...

    Abstract Background: Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology.
    Methods: 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary.
    Findings: A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromosomal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link.
    Interpretation: We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogenesis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility.
    Funding: Université Paris Saclay, Agence Nationale de Biomédecine.
    MeSH term(s) Female ; Humans ; Infertility/complications ; Mitomycins ; NF-kappa B ; Precision Medicine ; Primary Ovarian Insufficiency/etiology
    Chemical Substances Mitomycins ; NF-kappa B
    Language English
    Publishing date 2022-09-10
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2851331-9
    ISSN 2352-3964
    ISSN (online) 2352-3964
    DOI 10.1016/j.ebiom.2022.104246
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